Submissions for variant NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)

gnomAD frequency: 0.00477  dbSNP: rs35086265

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198518	SCV000251869	likely benign	not specified	2017-12-21	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224386	SCV000280997	likely benign	not provided	2016-04-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000986449	SCV000604446	benign	Mitochondrial complex 1 deficiency, nuclear type 6	2018-12-15	criteria provided, single submitter	clinical testing
Invitae	RCV000224386	SCV001099713	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Mendelics	RCV000986449	SCV001135455	likely benign	Mitochondrial complex 1 deficiency, nuclear type 6	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224386	SCV001147488	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NDUFS2: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001098905	SCV001255302	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). 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.