Submissions for variant NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=)

gnomAD frequency: 0.00040  dbSNP: rs149953813

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000968828	SCV001116307	benign	not provided	2023-11-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100983	SCV001257538	uncertain significance	Mitochondrial complex I deficiency, nuclear type 1	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000968828	SCV001885874	likely benign	not provided	2018-07-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962854	SCV004795111	likely benign	NDUFS2-related disorder	2019-03-29	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).
CeGaT Center for Human Genetics Tuebingen	RCV000968828	SCV004811226	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	NDUFS2: BP4, BP7