Submissions for variant NM_000257.4(MYH7):c.292G>A (p.Glu98Lys)

dbSNP: rs1440846436

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001341891	SCV001535787	uncertain significance	Hypertrophic cardiomyopathy	2020-03-06	criteria provided, single submitter	clinical testing	This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 98 of the MYH7 protein (p.Glu98Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant has not been reported in the literature in individuals with MYH7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV004820878	SCV005442287	uncertain significance	Myosin storage myopathy	2024-12-19	criteria provided, single submitter	clinical testing