ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.121-2A>G

dbSNP: rs1057516587
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410588 SCV000485907 likely pathogenic Pyknodysostosis 2016-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861371 SCV002230180 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the CTSK gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with pycnodysostosis (PMID: 10878663). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 370558). Studies have shown that disruption of this splice site results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 10878663). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000410588 SCV004049736 likely pathogenic Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.