ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr)

gnomAD frequency: 0.00001  dbSNP: rs761672176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814699 SCV000955118 uncertain significance Hypertrophic cardiomyopathy 2023-07-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs761672176, gnomAD 0.006%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 657978). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 500 of the MYBPC3 protein (p.Lys500Thr).
Fulgent Genetics, Fulgent Genetics RCV002495145 SCV002783204 uncertain significance Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-08-26 criteria provided, single submitter clinical testing

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