ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4271G>A (p.Gly1424Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049891 SCV001213965 uncertain significance Hypertrophic cardiomyopathy 2019-05-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1424 of the MYOM1 protein (p.Gly1424Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs752659443, ExAC 0.06%). This variant has been observed in an individual affected with restrictive cardiomyopathy, atrial fibrillation, and long QT syndrome. However, this individual also carried a pathogenic BAG3 variant, which was likely causative of disease (PMID: 27662471). 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.

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