Total 227 pathogenic variants reported for 3-methylcrotonyl-CoA carboxylase 1 deficiency 
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 SubmittersRCV000002006RCV000081995RCV000614611RCV005372223

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 SubmittersRCV000002007RCV000153465RCV001275509RCV002512665

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 SubmittersRCV000259066RCV000653496RCV003398679

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 SubmittersRCV000153467RCV001056550RCV003390844

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 SubmittersRCV000179962RCV001850096RCV003416001

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 SubmittersRCV000153469RCV001850097

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 SubmittersRCV000174145RCV000723480RCV001275510

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 SubmittersRCV000179961RCV000723408RCV001275516

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 SubmittersRCV000808142RCV001275506RCV003480081

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 SubmittersRCV000281372RCV000725859RCV001275513RCV003390913

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 SubmittersRCV000185992RCV000554762RCV004639166RCV006456809

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 SubmittersRCV000253593RCV000653498RCV003437045

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 SubmittersRCV000255554RCV000705149

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 SubmittersRCV000685415RCV003418068RCV003330650

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 SubmittersRCV000346325RCV001718732

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 SubmittersRCV000403506RCV001570176

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 SubmittersRCV000482746RCV000765716RCV002525964

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 SubmittersRCV000493467RCV001834597RCV002222532

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 SubmittersRCV000498532RCV000814269

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 SubmittersRCV000502051RCV003925498

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 SubmittersRCV000520630RCV002525116

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 SubmittersRCV000537046RCV002526735RCV004689793

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 SubmittersRCV000532293RCV001275517

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 SubmittersRCV000524927RCV001275508

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 SubmittersRCV000549808RCV001275512RCV004745481

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 SubmittersRCV000557663RCV000723424RCV002271527

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 SubmittersRCV000579365RCV000653486

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 SubmittersRCV000578625RCV000763509

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 SubmittersRCV000599442RCV000653488

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 SubmittersRCV000601556RCV000818682RCV003953023

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 SubmittersRCV000627283RCV001386926

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 SubmittersRCV000653495RCV003403504

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 SubmittersRCV000653493RCV003226348

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 SubmittersRCV000685336RCV001273450RCV001557287RCV003163095RCV004723062

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 SubmittersRCV000804238RCV001275507

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 SubmittersRCV000822030RCV001575916RCV003987713

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 SubmittersRCV000794626RCV002282369RCV004027497

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 SubmittersRCV000812667RCV003323730

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 SubmittersRCV000804750RCV003413611

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 SubmittersRCV000864404RCV001273452RCV003948090RCV004711318RCV005367599RCV005907011

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 SubmittersRCV000865064RCV003328637

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 SubmittersRCV001070728RCV002554607RCV003963033RCV005913599

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 SubmittersRCV001061122RCV002282445RCV003906167

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 SubmittersRCV001064711RCV005913572

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 SubmittersRCV001093261RCV004570320

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 SubmittersRCV001280052RCV002541729RCV005590005

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 SubmittersRCV001277561RCV002069402

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 SubmittersRCV001377562RCV004746362

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 SubmittersRCV001385129RCV005437113

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 SubmittersRCV001387388RCV004746363

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 SubmittersRCV001564641RCV004587179RCV005023194

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 SubmittersRCV001580733RCV005432761

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 SubmittersRCV001989030RCV003402023

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 SubmittersRCV002470112RCV003600440

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 SubmittersRCV002738304RCV003111673

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 SubmittersRCV002574854RCV005932023

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 SubmittersRCV002846799RCV005928622

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