ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs752659443
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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 RCV001049891 SCV001213965 uncertain significance Hypertrophic cardiomyopathy 2024-08-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1424 of the MYOM1 protein (p.Gly1424Glu). This variant is present in population databases (rs752659443, gnomAD 0.05%). This missense change has been observed in individual(s) with restrictive cardiomyopathy, atrial fibrillation, and/or long QT syndrome (PMID: 27662471). ClinVar contains an entry for this variant (Variation ID: 846561). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MYOM1 protein function with a positive predictive value of 80%. 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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