Submissions for variant NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)

gnomAD frequency: 0.00024  dbSNP: rs200124902

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000514361	SCV000343102	uncertain significance	not provided	2016-06-20	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514361	SCV000610279	uncertain significance	not provided	2017-07-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000514361	SCV000617100	uncertain significance	not provided	2024-04-15	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20843780)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088524	SCV001020815	likely benign	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	2024-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001088524	SCV001269644	uncertain significance	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics	RCV001088524	SCV001524629	uncertain significance	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	2019-11-20	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic	RCV000514361	SCV005408508	uncertain significance	not provided	2024-07-30	criteria provided, single submitter	clinical testing	BS1
PreventionGenetics, part of Exact Sciences	RCV003930157	SCV004741298	likely benign	SUCLA2-related disorder	2022-04-03	no assertion criteria provided	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).