ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)

gnomAD frequency: 0.00001  dbSNP: rs1237746431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035342 SCV002229771 pathogenic not provided 2022-11-08 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.Arg312*) have been determined to be pathogenic (PMID: 24767306; Invitae). 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: 1451614). 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.Trp298*) in the CTSK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the CTSK protein.
Baylor Genetics RCV003471120 SCV004215262 pathogenic Pyknodysostosis 2024-02-20 criteria provided, single submitter clinical testing

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