Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CSER _CC_NCGL, |
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). |