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 (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). 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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