ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp)

dbSNP: rs766036025
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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 RCV001352216 SCV001546753 uncertain significance Hypertrophic cardiomyopathy 10 2022-07-05 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 152 of the MYL2 protein (p.Tyr152Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of MYL2-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 1047494). 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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