ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.197C>T (p.Ala66Val)

dbSNP: rs1188423604
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202088 SCV001373187 uncertain significance Hypertrophic cardiomyopathy 2019-05-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 66 of the MYOM1 protein (p.Ala66Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYOM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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