ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3728C>G (p.Pro1243Arg) (rs863225266)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000201901 SCV000256646 uncertain significance Familial hypertrophic cardiomyopathy 1 2015-07-27 criteria provided, single submitter research The MYBPC3 Pro1243Arg is a a novel variant. It is absent from both the 1000 genomes project (, as well as the Exome Aggregation Consortium dataset ( The variant was first identified in a deceased patient who had HCM. Following familial screening we identified this variant in our HCM proband as well as the proband's affected brother. Computational tools SIFT, MutationTaster, and PolyPhen-2 predict this variant to have a deleterious effect, but no prediction is called by PolyPhen-HCM. In summary, based on rarity in general populations, no other finding reports, and the limited familial data, we classify MYBPC3 Pro1243Arg as a variant "uncertain significance".

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