Total 28 pathogenic variants reported for Succinyl-CoA acetoacetate transferase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000436.4(OXCT1):c.848C>G (p.Ser283Ter) SNV
Germline		 Chr5:41805674 Pathogenic Succinyl-CoA acetoacetate transferase deficiency No Assertion Criteria Provided
 CA119337 rs_121909299

1 SubmittersRCV000008641
NM_000436.4(OXCT1):c.1367G>T (p.Cys456Phe) SNV
Germline		 Chr5:41749579 Pathogenic Succinyl-CoA acetoacetate transferase deficiency No Assertion Criteria Provided
 CA119339 rs_121909300

1 SubmittersRCV000008642
NM_000436.4(OXCT1):c.971G>A (p.Gly324Glu) SNV
Germline		 Chr5:41803148 Pathogenic Succinyl-CoA acetoacetate transferase deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA119340 rs_121909301

2 SubmittersRCV000008644RCV001091907
NM_000436.4(OXCT1):c.656G>A (p.Gly219Glu) SNV
Germline		 Chr5:41842690 Pathogenic Succinyl-CoA acetoacetate transferase deficiency No Assertion Criteria Provided
 CA119341 rs_121909302

1 SubmittersRCV000008645
NM_000436.4(OXCT1):c.1248+5G>A SNV
Germline		 Chr5:41793998 Pathogenic Succinyl-CoA acetoacetate transferase deficiency No Assertion Criteria Provided
 rs_1561081472

1 SubmittersRCV000034378
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) SNV
Germline		 Chr5:41739420 Conflicting classifications of pathogenicity Condition: not provided
Succinyl-CoA acetoacetate transferase deficiency		 Criteria Provided
Conflicting Classifications
 CA220826 rs_144283422

4 SubmittersRCV000078818RCV000353371
NM_000436.4(OXCT1):c.1099+2T>C SNV
Germline		 Chr5:41801020 Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Conflicting Classifications
 CA3253388 rs_202242762

2 SubmittersRCV000318300
NM_000436.4(OXCT1):c.565-13C>T SNV
Germline		 Chr5:41842794 Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Conflicting Classifications
 CA3253559 rs_370659097

2 SubmittersRCV000325696
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) SNV
Germline		 Chr5:41801041 Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency
OXCT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA3253391 rs_140869022

4 SubmittersRCV000368343RCV003950252
NM_000436.4(OXCT1):c.956-15A>G SNV
Germline		 Chr5:41803178 Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Conflicting Classifications
 CA10624854 rs_886060636

2 SubmittersRCV000273746
NM_000436.4(OXCT1):c.424G>C (p.Ala142Pro) SNV
Germline		 Chr5:41850170 Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency No Assertion Criteria Provided
 rs_1561128268

1 SubmittersRCV000785998
NM_000436.4(OXCT1):c.477A>G (p.Thr159=) SNV
Germline		 Chr5:41850117 Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency
OXCT1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_141567487

3 SubmittersRCV000902139RCV003968266
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) SNV
Germline		 Chr5:41749544 Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1327401976

6 SubmittersRCV000984940RCV002223963
NM_000436.4(OXCT1):c.193G>A (p.Gly65Arg) SNV
Unknown		 Chr5:41861399 Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Single Submitter
 rs_1579903197

1 SubmittersRCV000987519
NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter) SNV
Germline		 Chr5:41853463 Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Single Submitter
 rs_1579884900

2 SubmittersRCV001027978
NM_000436.4(OXCT1):c.672-3T>C SNV
Germline		 Chr5:41840514 Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency
OXCT1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_534705079

2 SubmittersRCV001036394RCV003898042
NM_000436.4(OXCT1):c.1339-2A>G SNV
Germline		 Chr5:41749609 Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Single Submitter
 rs_1743668356

1 SubmittersRCV001250200
NM_000436.4(OXCT1):c.1370C>T (p.Thr457Ile) SNV
Germline		 Chr5:41749576 Pathogenic Succinyl-CoA acetoacetate transferase deficiency No Assertion Criteria Provided
 rs_369643387

1 SubmittersRCV001374718
NM_000436.4(OXCT1):c.803G>A (p.Arg268His) SNV
Germline		 Chr5:41807368 Pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Single Submitter
 rs_2112279054

1 SubmittersRCV001383891
NM_000436.4(OXCT1):c.649C>T (p.Arg217Ter) SNV
Germline		 Chr5:41842697 Pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Single Submitter
 rs_758813974

1 SubmittersRCV001383892
NM_000436.4(OXCT1):c.278+1G>A SNV
Germline		 Chr5:41861313 Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_2112471375

2 SubmittersRCV001782560
NM_000436.4(OXCT1):c.733-2A>G SNV
Germline		 Chr5:41807440 Pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Single Submitter
 rs_2112279505

1 SubmittersRCV002250168
NM_000436.4(OXCT1):c.1419+1G>C SNV
Germline		 Chr5:41749526 Pathogenic Succinyl-CoA acetoacetate transferase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002283623