ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)

dbSNP: rs140474226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000210378 SCV000196739 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 criteria provided, single submitter research
Invitae RCV000692510 SCV000820337 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1394*) in the DSP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant is present in population databases (rs140474226, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162505). This premature translational stop signal has been observed in individual(s) with DSP-related conditions (PMID: 30847666, 31727422, 31737537).

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