Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666587 | SCV000790899 | likely pathogenic | Pyknodysostosis | 2018-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530691 | SCV003280301 | pathogenic | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CTSK protein in which other variant(s) (p.Cys318Tyr) have been determined to be pathogenic (PMID: 20814951, 24057333, 27558267). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 551507). This variant has not been reported in the literature in individuals affected with CTSK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp292*) in the CTSK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 38 amino acid(s) of the CTSK protein. |
Genome- |
RCV000666587 | SCV004049712 | likely pathogenic | Pyknodysostosis | 2023-04-11 | criteria provided, single submitter | clinical testing |