ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)

dbSNP: rs587779393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348438 SCV001542742 pathogenic Hypertrophic cardiomyopathy 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1646 of the MYH7 protein (p.Leu1646Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant distal myopathy (PMID: 24664454; Invitae). ClinVar contains an entry for this variant (Variation ID: 143214). 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 MYH7 protein function. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003320105 SCV004013906 pathogenic Myosin storage myopathy 2021-10-25 criteria provided, single submitter clinical testing PS2, PM2, PP2, PP3, PP5
Neurogenetics Laboratory, Royal Perth Hospital RCV000132754 SCV000119905 pathogenic MYH7-related skeletal myopathy 2013-01-01 no assertion criteria provided clinical testing

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