ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4855del (p.Leu1619fs)

gnomAD frequency: 0.00003  dbSNP: rs1231490307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008083 SCV001167824 pathogenic not provided 2022-06-30 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001381140 SCV001579393 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-10-08 criteria provided, single submitter clinical testing Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 817029). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1619Trpfs*26) in the DSP gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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