ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) (rs267606905)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805305 SCV000945256 uncertain significance Familial hypertrophic cardiomyopathy 14 2018-10-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1457 of the MYH6 protein (p.Glu1457Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs267606905, ExAC 0.009%). This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 15998695). ClinVar contains an entry for this variant (Variation ID: 14152). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845441 SCV000987516 uncertain significance Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995124 SCV001149132 likely pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
OMIM RCV000015215 SCV000035472 pathogenic Dilated cardiomyopathy 1EE 2005-07-05 no assertion criteria provided literature only

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