Submissions for variant NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp)

dbSNP: rs1665634865

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001919532	SCV002188264	uncertain significance	not provided	2021-11-11	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with NDUFS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 138 of the NDUFS2 protein (p.Arg138Trp).
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	RCV003107898	SCV003762156	uncertain significance	Mitochondrial complex 1 deficiency, nuclear type 6	2023-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003107898	SCV004048804	uncertain significance	Mitochondrial complex 1 deficiency, nuclear type 6	2023-04-11	criteria provided, single submitter	clinical testing