ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1162del (p.Thr388fs) (rs1554106742)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549896 SCV000639733 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-10-10 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 10 of the DSP mRNA (c.1162delA), causing a frameshift at codon 388. This creates a premature translational stop signal (p.Thr388Leufs*5) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSP are known to be pathogenic. This particular variant has been reported in the literature in an individual with cardiomyopathy  (PMID: 26735901). For these reasons, this variant has been classified as Pathogenic.

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