ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)

dbSNP: rs1554108477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641766 SCV000763414 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2018-02-06 criteria provided, single submitter clinical testing Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This sequence change creates a premature translational stop signal (p.Gln1757*) in the DSP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. For these reasons, this variant has been classified as Pathogenic.
Heart Center, Academic Medical Center Amsterdam RCV000850013 SCV000992154 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 2018-12-01 criteria provided, single submitter research
Revvity Omics, Revvity RCV003144420 SCV003831642 likely pathogenic not provided 2021-12-23 criteria provided, single submitter clinical testing

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