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

gnomAD frequency: 0.00520  dbSNP: rs76956231

Total submissions: 10

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	2023-11-22	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	2024-01-25	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	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	OXCT1: BP4, BS2
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.
PreventionGenetics, part of Exact Sciences	RCV003917505	SCV004737167	likely benign	OXCT1-related condition	2020-05-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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