Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000674163 | SCV000799450 | uncertain significance | Usher syndrome type 1F | 2018-04-18 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001387819 | SCV001588538 | pathogenic | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1535Ilefs*25) in the PCDH15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 421 amino acid(s) of the PCDH15 protein. This variant is present in population databases (rs771473483, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 557957). This variant disrupts a region of the PCDH15 protein in which other variant(s) (p.Gln1576*) have been determined to be pathogenic (PMID: 28281779). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV001387819 | SCV002765721 | likely pathogenic | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 421 amino acids are replaced with 24 different amino acids, and other loss-of-function variants have been reported downstream in (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |