Submissions for variant NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)

gnomAD frequency: 0.00210  dbSNP: rs116134953

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000178365	SCV000171667	benign	not specified	2013-06-27	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.
Genetic Services Laboratory, University of Chicago	RCV000147503	SCV000194940	uncertain significance	Early myoclonic encephalopathy	2013-08-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000178365	SCV000230433	likely benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000472638	SCV000560567	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316411	SCV000851279	benign	Inborn genetic diseases	2016-10-05	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic	RCV001507783	SCV001713548	uncertain significance	not provided	2019-04-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000178365	SCV003934759	uncertain significance	not specified	2023-05-12	criteria provided, single submitter	clinical testing	Variant summary: SLC25A22 c.151G>A (p.Asp51Asn) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00052 in 246498 control chromosomes, predominantly at a frequency of 0.007 within the African or African-American subpopulation in the gnomAD database. c.151G>A has been reported in the literature in the heterozygous state in an individual affected with juvenile myoclonic epilepsy (Lee_2018). This report does not provide unequivocal conclusions about association of the variant with Developmental And Epileptic Encephalopathy, 3. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 29924869). Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as benign (n=1)/likely benign (n=2) and VUS (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen	RCV001507783	SCV004033081	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SLC25A22: BS2
PreventionGenetics, part of Exact Sciences	RCV003915274	SCV004736686	likely benign	SLC25A22-related disorder	2022-02-08	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).