ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.158C>T (p.Ala53Val) (rs747035411)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600437 SCV000713321 uncertain significance not specified 2017-06-19 criteria provided, single submitter clinical testing The p.Ala53Val in MYOM1 has not been previously reported in individuals with car diomyopathy, but has been identified in 19/125648 European chromosomes by the Ge nome Aggregation Database (gnomAD,; dbSNP rs747 035411). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinica l significance of the p.Ala53Val variant is uncertain.
Ambry Genetics RCV000620975 SCV000739882 uncertain significance Cardiovascular phenotype 2013-08-07 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000794215 SCV000933609 uncertain significance Hypertrophic cardiomyopathy 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 53 of the MYOM1 protein (p.Ala53Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs747035411, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYOM1-related disease. ClinVar contains an entry for this variant (Variation ID: 505876). 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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