ClinVar

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MT-ND1 p.Tyr277His Based on the data reviewed below, we classify this variant as a variant of uncertain significance. The protein product of MT-ND1 is part of complex I in the mitochondrial electron transport chain. This variant has not been reported in Mitomap (www.mitomap.org) as a mutation or a benign polymorphism. It has been reported in the general population at a low frequency: 0/2704 individuals in mtDB (www.genpat.uu.se/mtDB); 0/3735 individuals in MitoWheel (http://mitowheel.org/mitowheel.html). It has been associated with mitochondrial haplogroup NCM at a frequency of 0.6% (1 in 1083 individuals). The clinical significance of this is not known. This is a non-conservative amino acid change at a position that is conserved across species. In silico analysis predicts that it is probably damaging to the protein structure/function.