Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468365 | SCV000543248 | pathogenic | Arrhythmogenic right ventricular dysplasia 8 | 2017-04-10 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 14 of the DSP mRNA (c.1883delG), causing a frameshift at codon 628. This creates a premature translational stop signal (p.Gly628Alafs*8) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DSP are known to be pathogenic (PMID: 16061754, 20716751, 24503780). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001388773 | SCV001589904 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2017-04-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in DSP are known to be pathogenic (PMID: 16061754, 20716751, 24503780). This sequence change deletes 1 nucleotide from exon 14 of the DSP mRNA (c.1883delG), causing a frameshift at codon 628. This creates a premature translational stop signal (p.Gly628Alafs*8) and is expected to result in an absent or disrupted protein product. |