ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.419G>A (p.Trp140Ter)

dbSNP: rs2101951671
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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 RCV001390449 SCV001592188 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp140*) in the CTSK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTSK are known to be pathogenic (PMID: 12125807, 21569238). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTSK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076504). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469773 SCV004215264 likely pathogenic Pyknodysostosis 2022-09-23 criteria provided, single submitter clinical testing

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