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 (, and the Exome Aggregation Consortium dataset ( 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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