ClinVar Miner

Submissions for variant NM_016599.5(MYOZ2):c.156C>A (p.Asn52Lys)

dbSNP: rs1578729969
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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 RCV001066039 SCV001231032 uncertain significance Hypertrophic cardiomyopathy 2019-05-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 52 of the MYOZ2 protein (p.Asn52Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYOZ2-related conditions. This variant is not present in population databases (ExAC no frequency).

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