ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1359del (p.Val454fs) (rs863225271)

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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 RCV000201912 SCV000256658 pathogenic Familial hypertrophic cardiomyopathy 1 2015-05-01 criteria provided, single submitter research This MYBPC3 Val454Cysfs*12 variant is predicted to cause a frameshift starting at codon 454, and lead to a premature stop codon 11 amino acids downstream. This variant has been identified in our laboratory in a patient with a diagnosis of HCM. Co-segregation data from our laboratory showed that 3 affected individuals in the family all carried the variant. This frameshift variant is not reported in the literature and is not present in both the 1000 genomes project (http://www.1000genomes.org/), and the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Based on its absence in the general population. familial segregation of the variant with disease in our family, and that loss-of-function mutations in the MYBPC3 gene are an established mechanism of disease in HCM, this variant is categorised by our group as "pathogenic".

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