ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3642G>T (p.Trp1214Cys) (rs368765949)

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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 RCV000584811 SCV000692491 uncertain significance Familial hypertrophic cardiomyopathy 1 2017-03-09 criteria provided, single submitter research The MYBPC3 Trp1214Cys variant was identified by our laboratory in a 57 year old male, diagnosed with hypertrophic cardiomyopathy (HCM) at 42 years. The proband has no family history of HCM. This variant is absent the 1000 genomes project (, as well as the Exome Aggregation Consortium dataset ( In silico tools SIFT, MutationTaster, PolyPhen-HCM and PolyPhen-2 predict that is variant to be deleterious. Additional evidence is required to further elucidate the role of this variant in disease or as a normal variation. In summary, based on this information we classify MYBPC3 Trp1214Cys as a variant of "uncertain significance".

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