ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4568C>T (p.Pro1523Leu) (rs761317710)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227158 SCV000288004 uncertain significance Hypertrophic cardiomyopathy 2016-01-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1523 of the MYOM1 protein (p.Pro1523Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs761317710, ExAC 0.01%) but has not been reported in the literature in individuals with a MYOM1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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