ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.190_200del (p.Ala64fs)

dbSNP: rs760640027
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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 RCV001386891 SCV001587289 pathogenic not provided 2023-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1073787). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with CTSK-related conditions. This variant is present in population databases (rs760640027, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ala64Cysfs*5) 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).
Baylor Genetics RCV003469727 SCV004215253 likely pathogenic Pyknodysostosis 2024-03-20 criteria provided, single submitter clinical testing

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