Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000038031 | SCV000061697 | likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2011-12-23 | criteria provided, single submitter | clinical testing | The Gln1277X variant (DSP) has not been previously reported or identified by our laboratory. It leads to a premature stop at codon 1277, which is expected to le ad to a truncated or absent protein, and therefore, a heterozygous loss of funct ion of the DSP gene. Pathogenic loss of function variants in the DSP gene have b een described in patients with ARVC. Please note, an alternatively spliced trans cript in DSP is not predicted to be affected by this variant. In summary, the Gl n1277X variant is very likely sufficient to cardiomyopathy but additional data i s required to further access its pathogenicity. |
| Labcorp Genetics |
RCV003764677 | SCV004586908 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-08-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 44896). This variant has not been reported in the literature in individuals affected with DSP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1277*) 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). |