ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.364C>T (p.Arg122Ter)

gnomAD frequency: 0.00001  dbSNP: rs759107967
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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 RCV001390660 SCV001592461 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg122*) 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 present in population databases (rs759107967, gnomAD 0.006%). 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: 1076677). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469777 SCV004215248 likely pathogenic Pyknodysostosis 2024-01-20 criteria provided, single submitter clinical testing

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