ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.784+1G>A

dbSNP: rs1553196934
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 RCV000666321 SCV000790593 likely pathogenic Pyknodysostosis 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000797201 SCV000936747 likely pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CTSK-related disease. ClinVar contains an entry for this variant (Variation ID: 551299). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the CTSK gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CTSK are known to be pathogenic (PMID: 12125807, 21569238).
Genome-Nilou Lab RCV000666321 SCV004049717 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.