ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs)

dbSNP: rs758450569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409237 SCV000485989 likely pathogenic Pyknodysostosis 2016-03-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409237 SCV004215266 likely pathogenic Pyknodysostosis 2022-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766126 SCV004683548 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs758450569, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370625). This variant has not been reported in the literature in individuals affected with CTSK-related conditions. This sequence change creates a premature translational stop signal (p.Ile227Lysfs*10) 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).

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