ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) (rs201278114)

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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 RCV000201920 SCV000256667 uncertain significance Familial hypertrophic cardiomyopathy 1 2015-07-03 criteria provided, single submitter research This MYBPC3 Gly5Trp variant has not previously been reported in the general population or the literature. We have identified this variant in 1 HCM proband who also carries a second variant of uncertain significance in TNNT2 (Arg293Cys). This patient was diagnosed at 62 years and has a maximal wall thickness of 20mm. This variant is not present in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Computational analyses (Polyphen2, CADD, SIFT, Grantham) support a potentially deleterious effect. More evidence and additional data is needed to confirm the role of this variant. Thus, we classify this variant as of "uncertain significance".

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