Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	SNV Germline	Chr3:183045522	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Methylcrotonyl-CoA carboxylase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251975	rs_119103212	12 SubmittersRCV000002006 RCV000081995 RCV000614611 RCV005372223
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	SNV Germline	Chr3:183041679	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Methylcrotonyl-CoA carboxylase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA234237	rs_119103213	13 SubmittersRCV000002007 RCV000153465 RCV001275509 RCV002512665
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His)	SNV Germline	Chr3:183037218	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	No Assertion Criteria Provided	CA251976	rs_119103214	1 SubmittersRCV000002008
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)	SNV Germline	Chr3:183039093	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA251977	rs_119103215	2 SubmittersRCV000002009
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe)	SNV Germline	Chr3:183034068	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	No Assertion Criteria Provided	CA251978	rs_119103216	1 SubmittersRCV000002010
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met)	SNV Germline	Chr3:183037432	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	No Assertion Criteria Provided	CA251980	rs_119103218	1 SubmittersRCV000002012
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)	SNV Germline	Chr3:183039088	Conflicting classifications of pathogenicity	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Conflicting Classifications	CA285753	rs_398124352	5 SubmittersRCV000259066 RCV000653496 RCV003398679
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)	SNV Germline	Chr3:183071066	Conflicting classifications of pathogenicity	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Conflicting Classifications	CA234240	rs_727504004	6 SubmittersRCV000153467 RCV001056550 RCV003390844
NM_020166.5(MCCC1):c.640-1G>A	SNV Germline	Chr3:183071121	Pathogenic/Likely pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA234241	rs_727504005	5 SubmittersRCV000179962 RCV001850096 RCV003416001
NM_020166.5(MCCC1):c.137-2A>G	SNV Germline	Chr3:183092547	Pathogenic/Likely pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA234242	rs_727504006	5 SubmittersRCV000153469 RCV001850097
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)	SNV Germline	Chr3:183041720	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA274959	rs_544349961	7 SubmittersRCV000174145 RCV000723480 RCV001275510
NM_020166.5(MCCC1):c.640-2A>G	SNV Germline	Chr3:183071122	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA275407	rs_772395858	6 SubmittersRCV000179961 RCV000723408 RCV001275516
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)	SNV Germline	Chr3:183039072	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA312677	rs_768785753	8 SubmittersRCV000808142 RCV001275506 RCV003480081
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	SNV Germline	Chr3:183057343	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Methylcrotonyl-CoA carboxylase deficiency MCCC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA312675	rs_185741664	10 SubmittersRCV000281372 RCV000725859 RCV001275513 RCV003390913
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)	SNV Germline	Chr3:183092545	Conflicting classifications of pathogenicity	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency Inborn genetic diseases Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Conflicting Classifications	CA312679	rs_199517715	5 SubmittersRCV000185992 RCV000554762 RCV004639166 RCV006456809
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)	SNV Germline	Chr3:183092451	Conflicting classifications of pathogenicity	not specified 3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2719162	rs_144230304	8 SubmittersRCV000253593 RCV000653498 RCV003437045
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)	SNV Germline	Chr3:183045516	Pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2718906	rs_750484977	4 SubmittersRCV000255554 RCV000705149
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)	SNV Germline	Chr3:183039122	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2718819	rs_763713221	3 SubmittersRCV000952231
NM_020166.5(MCCC1):c.639+13A>G	SNV Germline	Chr3:183071197	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2719019	rs_140342772	2 SubmittersRCV000327075
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)	SNV Germline	Chr3:183072469	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder not specified	Criteria Provided Conflicting Classifications	CA2719078	rs_202197951	6 SubmittersRCV000685415 RCV003418068 RCV003330650
NM_020166.5(MCCC1):c.*1A>T	SNV Germline	Chr3:183015437	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2718542	rs_115605600	3 SubmittersRCV000346325 RCV001718732
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)	SNV Germline	Chr3:183015445	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2718545	rs_201806708	4 SubmittersRCV000403506 RCV001570176
NM_020166.5(MCCC1):c.768A>G (p.Val256=)	SNV Germline	Chr3:183057416	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA10618146	rs_567236851	2 SubmittersRCV000332695
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)	SNV Germline	Chr3:183022494	Conflicting classifications of pathogenicity	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2718647	rs_138480247	7 SubmittersRCV000482746 RCV000765716 RCV002525964
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)	SNV Germline	Chr3:183039073	Conflicting classifications of pathogenicity	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency not specified	Criteria Provided Conflicting Classifications	CA2718811	rs_375996272	4 SubmittersRCV000493467 RCV001834597 RCV002222532
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)	SNV Germline	Chr3:183086703	Conflicting classifications of pathogenicity	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA355319186	rs_1307589698	2 SubmittersRCV000498532 RCV000814269
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)	SNV Germline	Chr3:183025785	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Conflicting Classifications	CA2718689	rs_377320336	3 SubmittersRCV000502051 RCV003925498
NM_020166.5(MCCC1):c.1682-3A>G	SNV Germline	Chr3:183025807	Conflicting classifications of pathogenicity	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2718692	rs_760180709	3 SubmittersRCV000520630 RCV002525116
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)	SNV Germline	Chr3:183071002	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA2718987	rs_202083272	5 SubmittersRCV000537046 RCV002526735 RCV004689793
NM_020166.5(MCCC1):c.639+2T>A	SNV Germline	Chr3:183071208	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2719025	rs_199914879	5 SubmittersRCV000532293 RCV001275517
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)	SNV Germline	Chr3:183041573	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355322230	rs_764744442	3 SubmittersRCV000524927 RCV001275508
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)	SNV Germline	Chr3:183057321	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency MCCC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2718956	rs_746500530	6 SubmittersRCV000549808 RCV001275512 RCV004745481
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)	SNV Germline	Chr3:183057312	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Conflicting Classifications	CA2718955	rs_201041864	6 SubmittersRCV000557663 RCV000723424 RCV002271527
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)	SNV Germline	Chr3:183041609	Pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355322475	rs_1484347924	6 SubmittersRCV000579365 RCV000653486
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)	SNV Germline	Chr3:183052169	Pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2718925	rs_150862707	5 SubmittersRCV000578625 RCV000763509
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)	SNV Germline	Chr3:183020177	Pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA88689302	rs_905321122	5 SubmittersRCV000599442 RCV000653488
NM_020166.5(MCCC1):c.1731+6C>A	SNV Germline	Chr3:183025749	Conflicting classifications of pathogenicity	not specified 3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Conflicting Classifications	CA2718678	rs_369754994	3 SubmittersRCV000601556 RCV000818682 RCV003953023
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)	SNV Germline	Chr3:183071084	Pathogenic/Likely pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355329384	rs_1553862845	3 SubmittersRCV000627283 RCV001386926
NM_020166.5(MCCC1):c.1A>G (p.Met1Val)	SNV Germline	Chr3:183099440	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2719251	rs_762463914	4 SubmittersRCV000653495 RCV003403504
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly)	SNV Germline	Chr3:183041681	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355323050	rs_1553854969	1 SubmittersRCV000653497
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)	SNV Germline	Chr3:183092486	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2719171	rs_754460336	4 SubmittersRCV000653493 RCV003226348
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)	SNV Germline	Chr3:183086719	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA88707733	rs_920162850	1 SubmittersRCV000690996
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)	SNV Germline	Chr3:183020165	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency Condition: not provided Inborn genetic diseases MCCC1-related disorder	Criteria Provided Conflicting Classifications	CA2718611	rs_149017703	9 SubmittersRCV000685336 RCV001273450 RCV001557287 RCV003163095 RCV004723062
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)	SNV Germline	Chr3:183039100	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Single Submitter	CA2718816	rs_142507365	2 SubmittersRCV000804238 RCV001275507
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)	SNV Germline	Chr3:183039101	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Methylcrotonyl-CoA carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2718817	rs_376289130	6 SubmittersRCV000822030 RCV001575916 RCV003987713
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)	SNV Germline	Chr3:183071087	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2718999	rs_779412317	2 SubmittersRCV000810043
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)	SNV Germline	Chr3:183071314	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2719045	rs_201758122	6 SubmittersRCV000794626 RCV002282369 RCV004027497
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)	SNV Germline	Chr3:183086767	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency not specified	Criteria Provided Conflicting Classifications	CA2719115	rs_375244642	3 SubmittersRCV000812667 RCV003323730
NM_020166.5(MCCC1):c.1595-1G>C	SNV Germline	Chr3:183034078	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355318644	rs_1337201010	2 SubmittersRCV000807500
NM_020166.5(MCCC1):c.1268-1G>A	SNV Germline	Chr3:183039136	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355322081	rs_1191868168	1 SubmittersRCV000794932
NM_020166.5(MCCC1):c.89+1G>C	SNV Germline	Chr3:183099351	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2719229	rs_771730236	4 SubmittersRCV000804750 RCV003413611
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)	SNV Germline	Chr3:183039066	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Methylcrotonyl-CoA carboxylase deficiency MCCC1-related disorder Condition: not provided Inborn genetic diseases Sarcoma	Criteria Provided Conflicting Classifications	CA2718809	rs_144182725	7 SubmittersRCV000864404 RCV001273452 RCV003948090 RCV004711318 RCV005367599 RCV005907011
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)	SNV Germline	Chr3:183092428	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2719160	rs_148616219	4 SubmittersRCV000865064 RCV003328637
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)	SNV Germline	Chr3:183022447	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2718637	rs_201782543	2 SubmittersRCV000898868
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)	SNV Germline	Chr3:183092538	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2719187	rs_77681010	3 SubmittersRCV000930254
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)	SNV Germline	Chr3:183017306	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency Inborn genetic diseases MCCC1-related disorder Uterine corpus endometrial carcinoma	Criteria Provided Conflicting Classifications	CA2718582	rs_138937107	6 SubmittersRCV001070728 RCV002554607 RCV003963033 RCV005913599
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)	SNV Germline	Chr3:183041719	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency not specified MCCC1-related disorder	Criteria Provided Conflicting Classifications	CA2718863	rs_755328329	3 SubmittersRCV001061122 RCV002282445 RCV003906167
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)	SNV Germline	Chr3:183072402	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355331034	rs_1182086058	1 SubmittersRCV001034783
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)	SNV Germline	Chr3:183086782	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA355319654	rs_1717925328	3 SubmittersRCV001054400
NM_020166.5(MCCC1):c.90-1G>C	SNV Germline	Chr3:183094606	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355322850	rs_1718608300	2 SubmittersRCV001063409
NM_020166.5(MCCC1):c.1732-1G>T	SNV Germline	Chr3:183022555	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA2718665	rs_763877330	4 SubmittersRCV001064711 RCV005913572
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter)	SNV Germline	Chr3:183037285	Pathogenic	Condition: not provided 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355320230	rs_1713695107	2 SubmittersRCV001093261 RCV004570320
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)	SNV Germline	Chr3:183037329	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355320552	rs_1713700813	3 SubmittersRCV001095700
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)	SNV Germline	Chr3:183020166	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2718612	rs_199528231	2 SubmittersRCV001145881
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)	SNV Germline	Chr3:183025764	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2718684	rs_747015041	2 SubmittersRCV001148666
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)	SNV Germline	Chr3:183099432	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA437096765	rs_1191355416	2 SubmittersRCV001144094
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter)	SNV Germline	Chr3:183025764	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355317484	rs_747015041	1 SubmittersRCV001223878
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter)	SNV Germline	Chr3:183072470	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355331412	rs_761110034	2 SubmittersRCV001220421
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)	SNV Germline	Chr3:183025777	Conflicting classifications of pathogenicity	Methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2718687	rs_761480737	4 SubmittersRCV001280052 RCV002541729 RCV005590005
NM_020166.5(MCCC1):c.492-4A>G	SNV Germline	Chr3:183071361	Conflicting classifications of pathogenicity	Methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA88717234	rs_908545297	3 SubmittersRCV001277561 RCV002069402
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)	SNV Germline	Chr3:183071319	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA355330649	rs_1716671130	3 SubmittersRCV001320640
NM_020166.5(MCCC1):c.639+5G>T	SNV Germline	Chr3:183071205	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2719024	rs_768630906	4 SubmittersRCV001378210
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)	SNV Germline	Chr3:183099439	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Single Submitter	CA2719250	rs_776254500	2 SubmittersRCV001377562 RCV004746362
NM_020166.5(MCCC1):c.1268-2A>G	SNV Germline	Chr3:183039137	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA355322083	rs_2108474093	4 SubmittersRCV001385129 RCV005437113
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)	SNV Germline	Chr3:183041629	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA355322602	rs_2108479136	3 SubmittersRCV001387388 RCV004746363
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)	SNV Germline	Chr3:183086749	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355319471	rs_1163620394	2 SubmittersRCV001380802
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)	SNV Germline	Chr3:183094572	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355322442	rs_2108569910	1 SubmittersRCV001382304
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile)	SNV Germline	Chr3:183037418	Likely pathogenic	Condition: not provided Methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA88701120	rs_1000891879	3 SubmittersRCV001564641 RCV004587179 RCV005023194
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)	SNV Germline	Chr3:183039088	Conflicting classifications of pathogenicity	3-methylcrotonyl-CoA carboxylase 1 deficiency not specified	Criteria Provided Conflicting Classifications	CA2718813	rs_398124352	3 SubmittersRCV001580733 RCV005432761
NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter)	SNV Germline	Chr3:183072475	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355331430	rs_2108528645	1 SubmittersRCV001782419
NM_020166.5(MCCC1):c.955+1G>A	SNV Germline	Chr3:183052158	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355326458	rs_1340827377	2 SubmittersRCV001959352
NM_020166.5(MCCC1):c.1378-1G>T	SNV Germline	Chr3:183037435	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355321142	rs_2108470990	1 SubmittersRCV002045717
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter)	SNV Germline	Chr3:183041702	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355323233	rs_2108479383	1 SubmittersRCV001937351
NM_020166.5(MCCC1):c.1084-1G>C	SNV Germline	Chr3:183041751	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355323542	rs_2108479565	1 SubmittersRCV002010633
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter)	SNV Germline	Chr3:183041570	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355322215	rs_2108478837	1 SubmittersRCV001949253
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)	SNV Germline	Chr3:183020199	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355315285	rs_1311139055	2 SubmittersRCV001877254
NM_020166.5(MCCC1):c.1594+1G>A	SNV Germline	Chr3:183037217	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA88700853	rs_966900131	2 SubmittersRCV001999544
NM_020166.5(MCCC1):c.1681+2T>C	SNV Germline	Chr3:183033989	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA355318206	rs_1333994006	3 SubmittersRCV001989030 RCV003402023
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)	SNV Germline	Chr3:183086752	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355319491	rs_1177891822	2 SubmittersRCV001949048
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)	SNV Germline	Chr3:183045422	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2718892	rs_367625370	2 SubmittersRCV001956381
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)	SNV Germline	Chr3:183071310	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355330610	rs_748201122	2 SubmittersRCV001956382
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter)	SNV Germline	Chr3:183034021	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355318339	rs_2108461735	1 SubmittersRCV001972566
NM_020166.5(MCCC1):c.1595-2A>G	SNV Germline	Chr3:183034079	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355318654	rs_1235781420	1 SubmittersRCV002033638
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter)	SNV Germline	Chr3:183039070	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355321915	rs_1453886049	1 SubmittersRCV001975056
NM_020166.5(MCCC1):c.89+1G>A	SNV Germline	Chr3:183099351	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355324098	rs_771730236	1 SubmittersRCV002027189
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)	SNV Germline	Chr3:183086774	Pathogenic/Likely pathogenic	Methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355319594	rs_1012193526	2 SubmittersRCV002470112 RCV003600440
NM_020166.5(MCCC1):c.1870-2A>G	SNV Germline	Chr3:183020239	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355315513	rs_2530032320	2 SubmittersRCV002610439
NM_020166.5(MCCC1):c.1378-2A>G	SNV Germline	Chr3:183037436	Pathogenic/Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355321152	rs_2530130369	2 SubmittersRCV003112801
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)	SNV Germline	Chr3:183072471	Conflicting classifications of pathogenicity	Inborn genetic diseases 3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Conflicting Classifications	CA2719080	rs_150783093	4 SubmittersRCV002738304 RCV003111673
NM_020166.5(MCCC1):c.369+2T>C	SNV Germline	Chr3:183086691	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA355319130	rs_2530461749	2 SubmittersRCV002574854 RCV005932023
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)	SNV Germline	Chr3:183092462	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355321667	rs_1162953685	1 SubmittersRCV002576507
NM_020166.5(MCCC1):c.762-2A>G	SNV Germline	Chr3:183057424	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA2718968	rs_765149078	1 SubmittersRCV002819597
NM_020166.5(MCCC1):c.1731+1G>A	SNV Germline	Chr3:183025754	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency Ovarian serous cystadenocarcinoma	Criteria Provided Single Submitter	CA355317419	rs_2108446715	2 SubmittersRCV002846799 RCV005928622
NM_020166.5(MCCC1):c.761+1G>A	SNV Germline	Chr3:183070998	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355328990	rs_1577328073	3 SubmittersRCV002982252
NM_020166.5(MCCC1):c.955+1G>T	SNV Germline	Chr3:183052158	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355326455	rs_1340827377	1 SubmittersRCV003057937
NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter)	SNV Germline	Chr3:183071279	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA2719040	rs_537827975	1 SubmittersRCV003229528
NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter)	SNV Unknown	Chr3:183037227	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355319841	rs_745580589	1 SubmittersRCV003470056
NM_020166.5(MCCC1):c.1682-1G>A	SNV Germline	Chr3:183025805	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA355317686	rs_1279522271	3 SubmittersRCV003461830
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)	SNV Unknown	Chr3:183057318	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355327587	rs_1326114075	1 SubmittersRCV003461831
NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)	SNV Unknown	Chr3:183025757	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355317434	rs_1486131108	1 SubmittersRCV003470060
NM_020166.5(MCCC1):c.1869+1G>A	SNV Germline	Chr3:183022416	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA88691256	rs_990505166	2 SubmittersRCV003470061
NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter)	SNV Unknown	Chr3:183086695	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355319145	rs_2530461777	1 SubmittersRCV003461835
NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)	SNV Unknown	Chr3:183020234	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355315485	rs_2530032256	1 SubmittersRCV003470064
NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)	SNV Unknown	Chr3:183057358	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA2718960	rs_773433541	1 SubmittersRCV003461837
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)	SNV Unknown	Chr3:183022536	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA2718660	rs_780499601	1 SubmittersRCV003461838
NM_020166.5(MCCC1):c.1681+5G>A	SNV Unknown	Chr3:183033986	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA2718707	rs_762762143	1 SubmittersRCV003461840
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)	SNV Unknown	Chr3:183020225	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355315444	rs_772498224	1 SubmittersRCV003470068
NM_020166.5(MCCC1):c.873+1G>A	SNV Germline	Chr3:183057310	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355327550	rs_2530272868	1 SubmittersRCV003498846
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)	SNV Germline	Chr3:183092506	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355321790	rs_2530510478	2 SubmittersRCV003498208
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)	SNV Germline	Chr3:183022509	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355316765	rs_2530043474	1 SubmittersRCV003599896
NM_020166.5(MCCC1):c.90-1G>A	SNV Germline	Chr3:183094606	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355322855	rs_1718608300	1 SubmittersRCV003600227
NM_020166.5(MCCC1):c.273+1G>C	SNV Germline	Chr3:183092408	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355321482	rs_2530508699	1 SubmittersRCV003601938
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)	SNV Germline	Chr3:183045493	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355325292	rs_2530194420	1 SubmittersRCV003813716
NM_020166.5(MCCC1):c.1289A>G (p.Tyr430Cys)	SNV Germline	Chr3:183039114	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter	CA355322036	rs_2530145157	1 SubmittersRCV003989404
NM_020166.5(MCCC1):c.2050-2A>C	SNV Unknown	Chr3:183015568	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter		rs_2108428908	1 SubmittersRCV004574827
NM_020166.5(MCCC1):c.1732-2A>C	SNV Germline	Chr3:183022556	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005024541
NM_020166.5(MCCC1):c.664C>T (p.Gln222Ter)	SNV Germline	Chr3:183071096	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005035195
NM_020166.5(MCCC1):c.639+5G>C	SNV Germline	Chr3:183071205	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005024544
NM_020166.5(MCCC1):c.321C>A (p.Tyr107Ter)	SNV Germline	Chr3:183086741	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005024545
NM_020166.5(MCCC1):c.1377+2T>C	SNV Germline	Chr3:183039024	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005120776
NM_020166.5(MCCC1):c.1084-2A>C	SNV Germline	Chr3:183041752	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005139062
NM_020166.5(MCCC1):c.874-1G>T	SNV Germline	Chr3:183052241	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005163676
NM_020166.5(MCCC1):c.761+2T>C	SNV Germline	Chr3:183070997	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005204311
NM_020166.5(MCCC1):c.1084-1G>T	SNV Germline	Chr3:183041751	Likely pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005204592
NM_020166.5(MCCC1):c.1869+2T>C	SNV Germline	Chr3:183022415	Pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005885636

NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)

SNV
Germline

Chr3:183045522

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA251975

rs_119103212

12 SubmittersRCV000002006 RCV000081995 RCV000614611 RCV005372223

NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)

SNV
Germline

Chr3:183041679

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA234237

rs_119103213

13 SubmittersRCV000002007 RCV000153465 RCV001275509 RCV002512665

NM_020166.5(MCCC1):c.1594G>C (p.Asp532His)

SNV
Germline

Chr3:183037218

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

No Assertion Criteria Provided

CA251976

rs_119103214

1 SubmittersRCV000002008

NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)

SNV
Germline

Chr3:183039093

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA251977

rs_119103215

2 SubmittersRCV000002009

NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe)

SNV
Germline

Chr3:183034068

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

No Assertion Criteria Provided

CA251978

rs_119103216

1 SubmittersRCV000002010

NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met)

SNV
Germline

Chr3:183037432

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

No Assertion Criteria Provided

CA251980

rs_119103218

1 SubmittersRCV000002012

NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)

SNV
Germline

Chr3:183039088

Conflicting classifications of pathogenicity

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Conflicting Classifications

CA285753

rs_398124352

5 SubmittersRCV000259066 RCV000653496 RCV003398679

NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)

SNV
Germline

Chr3:183071066

Conflicting classifications of pathogenicity

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Conflicting Classifications

CA234240

rs_727504004

6 SubmittersRCV000153467 RCV001056550 RCV003390844

NM_020166.5(MCCC1):c.640-1G>A

SNV
Germline

Chr3:183071121

Pathogenic/Likely pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA234241

rs_727504005

5 SubmittersRCV000179962 RCV001850096 RCV003416001

NM_020166.5(MCCC1):c.137-2A>G

SNV
Germline

Chr3:183092547

Pathogenic/Likely pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA234242

rs_727504006

5 SubmittersRCV000153469 RCV001850097

NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)

SNV
Germline

Chr3:183041720

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA274959

rs_544349961

7 SubmittersRCV000174145 RCV000723480 RCV001275510

NM_020166.5(MCCC1):c.640-2A>G

SNV
Germline

Chr3:183071122

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA275407

rs_772395858

6 SubmittersRCV000179961 RCV000723408 RCV001275516

NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)

SNV
Germline

Chr3:183039072

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA312677

rs_768785753

8 SubmittersRCV000808142 RCV001275506 RCV003480081

NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)

SNV
Germline

Chr3:183057343

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency
MCCC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA312675

rs_185741664

10 SubmittersRCV000281372 RCV000725859 RCV001275513 RCV003390913

NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)

SNV
Germline

Chr3:183092545

Conflicting classifications of pathogenicity

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency
Inborn genetic diseases
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA312679

rs_199517715

5 SubmittersRCV000185992 RCV000554762 RCV004639166 RCV006456809

NM_020166.5(MCCC1):c.231G>A (p.Ala77=)

SNV
Germline

Chr3:183092451

Conflicting classifications of pathogenicity

not specified
3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2719162

rs_144230304

8 SubmittersRCV000253593 RCV000653498 RCV003437045

NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)

SNV
Germline

Chr3:183045516

Pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2718906

rs_750484977

4 SubmittersRCV000255554 RCV000705149

NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)

SNV
Germline

Chr3:183039122

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2718819

rs_763713221

3 SubmittersRCV000952231

NM_020166.5(MCCC1):c.639+13A>G

SNV
Germline

Chr3:183071197

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2719019

rs_140342772

2 SubmittersRCV000327075

NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)

SNV
Germline

Chr3:183072469

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2719078

rs_202197951

6 SubmittersRCV000685415 RCV003418068 RCV003330650

NM_020166.5(MCCC1):c.*1A>T

SNV
Germline

Chr3:183015437

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2718542

rs_115605600

3 SubmittersRCV000346325 RCV001718732

NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)

SNV
Germline

Chr3:183015445

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2718545

rs_201806708

4 SubmittersRCV000403506 RCV001570176

NM_020166.5(MCCC1):c.768A>G (p.Val256=)

SNV
Germline

Chr3:183057416

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA10618146

rs_567236851

2 SubmittersRCV000332695

NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)

SNV
Germline

Chr3:183022494

Conflicting classifications of pathogenicity

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2718647

rs_138480247

7 SubmittersRCV000482746 RCV000765716 RCV002525964

NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr3:183039073

Conflicting classifications of pathogenicity

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency
not specified

Criteria Provided
Conflicting Classifications

CA2718811

rs_375996272

4 SubmittersRCV000493467 RCV001834597 RCV002222532

NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)

SNV
Germline

Chr3:183086703

Conflicting classifications of pathogenicity

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA355319186

rs_1307589698

2 SubmittersRCV000498532 RCV000814269

NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)

SNV
Germline

Chr3:183025785

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Conflicting Classifications

CA2718689

rs_377320336

3 SubmittersRCV000502051 RCV003925498

NM_020166.5(MCCC1):c.1682-3A>G

SNV
Germline

Chr3:183025807

Conflicting classifications of pathogenicity

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2718692

rs_760180709

3 SubmittersRCV000520630 RCV002525116

NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)

SNV
Germline

Chr3:183071002

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2718987

rs_202083272

5 SubmittersRCV000537046 RCV002526735 RCV004689793

NM_020166.5(MCCC1):c.639+2T>A

SNV
Germline

Chr3:183071208

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2719025

rs_199914879

5 SubmittersRCV000532293 RCV001275517

NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)

SNV
Germline

Chr3:183041573

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355322230

rs_764744442

3 SubmittersRCV000524927 RCV001275508

NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)

SNV
Germline

Chr3:183057321

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency
MCCC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2718956

rs_746500530

6 SubmittersRCV000549808 RCV001275512 RCV004745481

NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)

SNV
Germline

Chr3:183057312

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA2718955

rs_201041864

6 SubmittersRCV000557663 RCV000723424 RCV002271527

NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)

SNV
Germline

Chr3:183041609

Pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355322475

rs_1484347924

6 SubmittersRCV000579365 RCV000653486

NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)

SNV
Germline

Chr3:183052169

Pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2718925

rs_150862707

5 SubmittersRCV000578625 RCV000763509

NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)

SNV
Germline

Chr3:183020177

Pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA88689302

rs_905321122

5 SubmittersRCV000599442 RCV000653488

NM_020166.5(MCCC1):c.1731+6C>A

SNV
Germline

Chr3:183025749

Conflicting classifications of pathogenicity

not specified
3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Conflicting Classifications

CA2718678

rs_369754994

3 SubmittersRCV000601556 RCV000818682 RCV003953023

NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)

SNV
Germline

Chr3:183071084

Pathogenic/Likely pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355329384

rs_1553862845

3 SubmittersRCV000627283 RCV001386926

NM_020166.5(MCCC1):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:183099440

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2719251

rs_762463914

4 SubmittersRCV000653495 RCV003403504

NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly)

SNV
Germline

Chr3:183041681

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355323050

rs_1553854969

1 SubmittersRCV000653497

NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)

SNV
Germline

Chr3:183092486

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2719171

rs_754460336

4 SubmittersRCV000653493 RCV003226348

NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)

SNV
Germline

Chr3:183086719

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA88707733

rs_920162850

1 SubmittersRCV000690996

NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)

SNV
Germline

Chr3:183020165

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency
Condition: not provided
Inborn genetic diseases
MCCC1-related disorder

Criteria Provided
Conflicting Classifications

CA2718611

rs_149017703

9 SubmittersRCV000685336 RCV001273450 RCV001557287 RCV003163095 RCV004723062

NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)

SNV
Germline

Chr3:183039100

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Single Submitter

CA2718816

rs_142507365

2 SubmittersRCV000804238 RCV001275507

NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)

SNV
Germline

Chr3:183039101

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2718817

rs_376289130

6 SubmittersRCV000822030 RCV001575916 RCV003987713

NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)

SNV
Germline

Chr3:183071087

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2718999

rs_779412317

2 SubmittersRCV000810043

NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)

SNV
Germline

Chr3:183071314

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2719045

rs_201758122

6 SubmittersRCV000794626 RCV002282369 RCV004027497

NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)

SNV
Germline

Chr3:183086767

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
not specified

Criteria Provided
Conflicting Classifications

CA2719115

rs_375244642

3 SubmittersRCV000812667 RCV003323730

NM_020166.5(MCCC1):c.1595-1G>C

SNV
Germline

Chr3:183034078

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355318644

rs_1337201010

2 SubmittersRCV000807500

NM_020166.5(MCCC1):c.1268-1G>A

SNV
Germline

Chr3:183039136

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355322081

rs_1191868168

1 SubmittersRCV000794932

NM_020166.5(MCCC1):c.89+1G>C

SNV
Germline

Chr3:183099351

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2719229

rs_771730236

4 SubmittersRCV000804750 RCV003413611

NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)

SNV
Germline

Chr3:183039066

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Methylcrotonyl-CoA carboxylase deficiency
MCCC1-related disorder
Condition: not provided
Inborn genetic diseases
Sarcoma

Criteria Provided
Conflicting Classifications

CA2718809

rs_144182725

7 SubmittersRCV000864404 RCV001273452 RCV003948090 RCV004711318 RCV005367599 RCV005907011

NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)

SNV
Germline

Chr3:183092428

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2719160

rs_148616219

4 SubmittersRCV000865064 RCV003328637

NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)

SNV
Germline

Chr3:183022447

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2718637

rs_201782543

2 SubmittersRCV000898868

NM_020166.5(MCCC1):c.144C>T (p.Asn48=)

SNV
Germline

Chr3:183092538

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2719187

rs_77681010

3 SubmittersRCV000930254

NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)

SNV
Germline

Chr3:183017306

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
Inborn genetic diseases
MCCC1-related disorder
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA2718582

rs_138937107

6 SubmittersRCV001070728 RCV002554607 RCV003963033 RCV005913599

NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)

SNV
Germline

Chr3:183041719

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
not specified
MCCC1-related disorder

Criteria Provided
Conflicting Classifications

CA2718863

rs_755328329

3 SubmittersRCV001061122 RCV002282445 RCV003906167

NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)

SNV
Germline

Chr3:183072402

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355331034

rs_1182086058

1 SubmittersRCV001034783

NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)

SNV
Germline

Chr3:183086782

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA355319654

rs_1717925328

3 SubmittersRCV001054400

NM_020166.5(MCCC1):c.90-1G>C

SNV
Germline

Chr3:183094606

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355322850

rs_1718608300

2 SubmittersRCV001063409

NM_020166.5(MCCC1):c.1732-1G>T

SNV
Germline

Chr3:183022555

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA2718665

rs_763877330

4 SubmittersRCV001064711 RCV005913572

NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter)

SNV
Germline

Chr3:183037285

Pathogenic

Condition: not provided
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355320230

rs_1713695107

2 SubmittersRCV001093261 RCV004570320

NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)

SNV
Germline

Chr3:183037329

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355320552

rs_1713700813

3 SubmittersRCV001095700

NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)

SNV
Germline

Chr3:183020166

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2718612

rs_199528231

2 SubmittersRCV001145881

NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)

SNV
Germline

Chr3:183025764

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2718684

rs_747015041

2 SubmittersRCV001148666

NM_020166.5(MCCC1):c.9G>A (p.Ala3=)

SNV
Germline

Chr3:183099432

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA437096765

rs_1191355416

2 SubmittersRCV001144094

NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter)

SNV
Germline

Chr3:183025764

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355317484

rs_747015041

1 SubmittersRCV001223878

NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter)

SNV
Germline

Chr3:183072470

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355331412

rs_761110034

2 SubmittersRCV001220421

NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)

SNV
Germline

Chr3:183025777

Conflicting classifications of pathogenicity

Methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2718687

rs_761480737

4 SubmittersRCV001280052 RCV002541729 RCV005590005

NM_020166.5(MCCC1):c.492-4A>G

SNV
Germline

Chr3:183071361

Conflicting classifications of pathogenicity

Methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA88717234

rs_908545297

3 SubmittersRCV001277561 RCV002069402

NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)

SNV
Germline

Chr3:183071319

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA355330649

rs_1716671130

3 SubmittersRCV001320640

NM_020166.5(MCCC1):c.639+5G>T

SNV
Germline

Chr3:183071205

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2719024

rs_768630906

4 SubmittersRCV001378210

NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:183099439

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Single Submitter

CA2719250

rs_776254500

2 SubmittersRCV001377562 RCV004746362

NM_020166.5(MCCC1):c.1268-2A>G

SNV
Germline

Chr3:183039137

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355322083

rs_2108474093

4 SubmittersRCV001385129 RCV005437113

NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)

SNV
Germline

Chr3:183041629

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA355322602

rs_2108479136

3 SubmittersRCV001387388 RCV004746363

NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr3:183086749

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355319471

rs_1163620394

2 SubmittersRCV001380802

NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)

SNV
Germline

Chr3:183094572

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355322442

rs_2108569910

1 SubmittersRCV001382304

NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile)

SNV
Germline

Chr3:183037418

Likely pathogenic

Condition: not provided
Methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA88701120

rs_1000891879

3 SubmittersRCV001564641 RCV004587179 RCV005023194

NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)

SNV
Germline

Chr3:183039088

Conflicting classifications of pathogenicity

3-methylcrotonyl-CoA carboxylase 1 deficiency
not specified

Criteria Provided
Conflicting Classifications

CA2718813

rs_398124352

3 SubmittersRCV001580733 RCV005432761

NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter)

SNV
Germline

Chr3:183072475

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355331430

rs_2108528645

1 SubmittersRCV001782419

NM_020166.5(MCCC1):c.955+1G>A

SNV
Germline

Chr3:183052158

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355326458

rs_1340827377

2 SubmittersRCV001959352

NM_020166.5(MCCC1):c.1378-1G>T

SNV
Germline

Chr3:183037435

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355321142

rs_2108470990

1 SubmittersRCV002045717

NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter)

SNV
Germline

Chr3:183041702

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355323233

rs_2108479383

1 SubmittersRCV001937351

NM_020166.5(MCCC1):c.1084-1G>C

SNV
Germline

Chr3:183041751

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355323542

rs_2108479565

1 SubmittersRCV002010633

NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter)

SNV
Germline

Chr3:183041570

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355322215

rs_2108478837

1 SubmittersRCV001949253

NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)

SNV
Germline

Chr3:183020199

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355315285

rs_1311139055

2 SubmittersRCV001877254

NM_020166.5(MCCC1):c.1594+1G>A

SNV
Germline

Chr3:183037217

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA88700853

rs_966900131

2 SubmittersRCV001999544

NM_020166.5(MCCC1):c.1681+2T>C

SNV
Germline

Chr3:183033989

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA355318206

rs_1333994006

3 SubmittersRCV001989030 RCV003402023

NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)

SNV
Germline

Chr3:183086752

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355319491

rs_1177891822

2 SubmittersRCV001949048

NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)

SNV
Germline

Chr3:183045422

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2718892

rs_367625370

2 SubmittersRCV001956381

NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)

SNV
Germline

Chr3:183071310

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355330610

rs_748201122

2 SubmittersRCV001956382

NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter)

SNV
Germline

Chr3:183034021

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355318339

rs_2108461735

1 SubmittersRCV001972566

NM_020166.5(MCCC1):c.1595-2A>G

SNV
Germline

Chr3:183034079

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355318654

rs_1235781420

1 SubmittersRCV002033638

NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr3:183039070

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355321915

rs_1453886049

1 SubmittersRCV001975056

NM_020166.5(MCCC1):c.89+1G>A

SNV
Germline

Chr3:183099351

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355324098

rs_771730236

1 SubmittersRCV002027189

NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)

SNV
Germline

Chr3:183086774

Pathogenic/Likely pathogenic

Methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355319594

rs_1012193526

2 SubmittersRCV002470112 RCV003600440

NM_020166.5(MCCC1):c.1870-2A>G

SNV
Germline

Chr3:183020239

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355315513

rs_2530032320

2 SubmittersRCV002610439

NM_020166.5(MCCC1):c.1378-2A>G

SNV
Germline

Chr3:183037436

Pathogenic/Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355321152

rs_2530130369

2 SubmittersRCV003112801

NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)

SNV
Germline

Chr3:183072471

Conflicting classifications of pathogenicity

Inborn genetic diseases
3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Conflicting Classifications

CA2719080

rs_150783093

4 SubmittersRCV002738304 RCV003111673

NM_020166.5(MCCC1):c.369+2T>C

SNV
Germline

Chr3:183086691

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA355319130

rs_2530461749

2 SubmittersRCV002574854 RCV005932023

NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)

SNV
Germline

Chr3:183092462

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355321667

rs_1162953685

1 SubmittersRCV002576507

NM_020166.5(MCCC1):c.762-2A>G

SNV
Germline

Chr3:183057424

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA2718968

rs_765149078

1 SubmittersRCV002819597

NM_020166.5(MCCC1):c.1731+1G>A

SNV
Germline

Chr3:183025754

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

CA355317419

rs_2108446715

2 SubmittersRCV002846799 RCV005928622

NM_020166.5(MCCC1):c.761+1G>A

SNV
Germline

Chr3:183070998

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355328990

rs_1577328073

3 SubmittersRCV002982252

NM_020166.5(MCCC1):c.955+1G>T

SNV
Germline

Chr3:183052158

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355326455

rs_1340827377

1 SubmittersRCV003057937

NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter)

SNV
Germline

Chr3:183071279

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA2719040

rs_537827975

1 SubmittersRCV003229528

NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter)

SNV
Unknown

Chr3:183037227

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355319841

rs_745580589

1 SubmittersRCV003470056

NM_020166.5(MCCC1):c.1682-1G>A

SNV
Germline

Chr3:183025805

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA355317686

rs_1279522271

3 SubmittersRCV003461830

NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)

SNV
Unknown

Chr3:183057318

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355327587

rs_1326114075

1 SubmittersRCV003461831

NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)

SNV
Unknown

Chr3:183025757

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355317434

rs_1486131108

1 SubmittersRCV003470060

NM_020166.5(MCCC1):c.1869+1G>A

SNV
Germline

Chr3:183022416

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA88691256

rs_990505166

2 SubmittersRCV003470061

NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter)

SNV
Unknown

Chr3:183086695

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355319145

rs_2530461777

1 SubmittersRCV003461835

NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)

SNV
Unknown

Chr3:183020234

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355315485

rs_2530032256

1 SubmittersRCV003470064

NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)

SNV
Unknown

Chr3:183057358

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA2718960

rs_773433541

1 SubmittersRCV003461837

NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)

SNV
Unknown

Chr3:183022536

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA2718660

rs_780499601

1 SubmittersRCV003461838

NM_020166.5(MCCC1):c.1681+5G>A

SNV
Unknown

Chr3:183033986

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA2718707

rs_762762143

1 SubmittersRCV003461840

NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)

SNV
Unknown

Chr3:183020225

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355315444

rs_772498224

1 SubmittersRCV003470068

NM_020166.5(MCCC1):c.873+1G>A

SNV
Germline

Chr3:183057310

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355327550

rs_2530272868

1 SubmittersRCV003498846

NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)

SNV
Germline

Chr3:183092506

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355321790

rs_2530510478

2 SubmittersRCV003498208

NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)

SNV
Germline

Chr3:183022509

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355316765

rs_2530043474

1 SubmittersRCV003599896

NM_020166.5(MCCC1):c.90-1G>A

SNV
Germline

Chr3:183094606

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355322855

rs_1718608300

1 SubmittersRCV003600227

NM_020166.5(MCCC1):c.273+1G>C

SNV
Germline

Chr3:183092408

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355321482

rs_2530508699

1 SubmittersRCV003601938

NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)

SNV
Germline

Chr3:183045493

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355325292

rs_2530194420

1 SubmittersRCV003813716

NM_020166.5(MCCC1):c.1289A>G (p.Tyr430Cys)

SNV
Germline

Chr3:183039114

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

CA355322036

rs_2530145157

1 SubmittersRCV003989404

NM_020166.5(MCCC1):c.2050-2A>C

SNV
Unknown

Chr3:183015568

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

rs_2108428908

1 SubmittersRCV004574827

NM_020166.5(MCCC1):c.1732-2A>C

SNV
Germline

Chr3:183022556

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005024541

NM_020166.5(MCCC1):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr3:183071096

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005035195

NM_020166.5(MCCC1):c.639+5G>C

SNV
Germline

Chr3:183071205

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005024544

NM_020166.5(MCCC1):c.321C>A (p.Tyr107Ter)

SNV
Germline

Chr3:183086741

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005024545

NM_020166.5(MCCC1):c.1377+2T>C

SNV
Germline

Chr3:183039024

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005120776

NM_020166.5(MCCC1):c.1084-2A>C

SNV
Germline

Chr3:183041752

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005139062

NM_020166.5(MCCC1):c.874-1G>T

SNV
Germline

Chr3:183052241

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005163676

NM_020166.5(MCCC1):c.761+2T>C

SNV
Germline

Chr3:183070997

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005204311

NM_020166.5(MCCC1):c.1084-1G>T

SNV
Germline

Chr3:183041751

Likely pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005204592

NM_020166.5(MCCC1):c.1869+2T>C

SNV
Germline

Chr3:183022415

Pathogenic

3-methylcrotonyl-CoA carboxylase 1 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005885636