ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)

dbSNP: rs202040269
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409218 SCV000486885 likely pathogenic Pyknodysostosis 2016-08-31 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000409218 SCV002053986 pathogenic Pyknodysostosis criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000409218 SCV004049725 likely pathogenic Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing
Human Genetics Unit, University Of Colombo RCV000409218 SCV004218417 pathogenic Pyknodysostosis 2023-12-28 criteria provided, single submitter clinical testing This variant was observed in compound heterozygosity with variant (NM_000396.3:c.263A>C)
Invitae RCV003558363 SCV004291999 pathogenic not provided 2023-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371328). This premature translational stop signal has been observed in individual(s) with pycnodysostosis (PMID: 10074491, 29441215). This variant is present in population databases (rs202040269, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln190*) 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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