ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.305_308dup (p.Met103Ilefs) (rs1555123633)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555776 SCV000623580 pathogenic Hypertrophic cardiomyopathy 2017-02-03 criteria provided, single submitter clinical testing This sequence change inserts 4 nucleotides in exon 3 of the MYBPC3 mRNA (c.305_308dupCCAT), causing a frameshift at codon 103. This creates a premature translational stop signal (p.Met103Ilefs*11) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). For these reasons, this variant has been classified as Pathogenic.
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786162 SCV000924853 likely pathogenic not provided 2017-02-21 no assertion criteria provided provider interpretation

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