ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)

dbSNP: rs1553196900
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Total submissions: 3
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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-Nilou Lab RCV000666587 SCV004049712 likely pathogenic Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing

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