ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3209A>G (p.Gln1070Arg)

dbSNP: rs1595841598
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813989 SCV000954376 uncertain significance Hypertrophic cardiomyopathy 2020-03-06 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with MYBPC3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 1070 of the MYBPC3 protein (p.Gln1070Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.

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