ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.826del (p.His276fs)

dbSNP: rs1553196906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673008 SCV000798172 likely pathogenic Pyknodysostosis 2018-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001213837 SCV001385488 likely pathogenic not provided 2019-09-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys318 amino acid residue in CTSK. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20814951, 24057333, 27558267). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with CTSK-related conditions. ClinVar contains an entry for this variant (Variation ID: 556938). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the CTSK gene (p.His276Metfs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acids of the CTSK protein.
Genome-Nilou Lab RCV000673008 SCV004049713 likely pathogenic Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673008 SCV005058624 likely pathogenic Pyknodysostosis 2023-11-09 criteria provided, single submitter clinical testing

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