ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.588G>C (p.Trp196Cys)

dbSNP: rs727503215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151161 SCV000198961 uncertain significance not specified 2020-02-27 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV001298640 SCV001487703 uncertain significance Hypertrophic cardiomyopathy 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 164146). 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. This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 196 of the MYBPC3 protein (p.Trp196Cys).

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