ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)

gnomAD frequency: 0.00413  dbSNP: rs76956231
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000153630 SCV000203177 benign not specified 2013-11-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000987520 SCV000604584 benign Succinyl-CoA acetoacetate transferase deficiency 2021-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000755334 SCV000969979 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000987520 SCV001104402 benign Succinyl-CoA acetoacetate transferase deficiency 2020-11-30 criteria provided, single submitter clinical testing
Mendelics RCV000987520 SCV001136832 benign Succinyl-CoA acetoacetate transferase deficiency 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755334 SCV001154399 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000987520 SCV001317380 likely benign Succinyl-CoA acetoacetate transferase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000755334 SCV002035983 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000755334 SCV002038477 likely benign not provided no assertion criteria provided clinical testing

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