ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) (rs1554108610)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552136 SCV000639742 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-03-02 criteria provided, single submitter clinical testing This sequence change deletes 7 nucleotides from exon 24 of the DSP mRNA (c.5460_5466delAGTCCTG), causing a frameshift at codon 1821. This creates a premature translational stop signal in the last exon of the DSP mRNA (p.Val1821Serfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1050 amino acids of the DSP protein. While this truncation has not been reported in the literature, a truncating variant located downstream in exon 24 has been reported to be deleterious (PMID: 11063735). For these reasons, this variant has been classified as Pathogenic.

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