ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4508A>T (p.Glu1503Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003516362 SCV004296554 uncertain significance Hypertrophic cardiomyopathy 14 2023-01-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1503 of the MYH6 protein (p.Glu1503Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypoplastic left heart syndrome (PMID: 27789736). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH6 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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