ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)

dbSNP: rs794727270
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723984 SCV000227295 pathogenic not provided 2014-06-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000175755 SCV000807257 pathogenic Syndromic X-linked intellectual disability Najm type 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory de novo in a 1-month-old male with hypotonia, myoclonic seizures, dysmorphic features, failure to thrive, microcephaly, brain anomalies (simplified sulcation, delayed myelination, diminutive brainstem & cerebellum), concealed penis.
GeneDx RCV000723984 SCV001168425 pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28944139, 25326635, 25886057, 22452838, 28783747, 31474318, 31069529, 32696595, 21735175, 35670295)
Revvity Omics, Revvity RCV000723984 SCV002016924 pathogenic not provided 2020-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089881 SCV005839963 pathogenic Intellectual disability, CASK-related, X-linked 2024-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg27*) in the CASK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CASK are known to be pathogenic (PMID: 19165920, 20029458, 21954287, 22452838, 22709267). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CASK-related conditions (PMID: 21735175, 35670295). ClinVar contains an entry for this variant (Variation ID: 195200). For these reasons, this variant has been classified as Pathogenic.
Dobyns Lab, Seattle Children's Research Institute RCV000175755 SCV000916335 pathogenic Syndromic X-linked intellectual disability Najm type 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257954 SCV001434767 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research
OMIM RCV000175755 SCV004543799 pathogenic Syndromic X-linked intellectual disability Najm type 2024-02-12 no assertion criteria provided literature only

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.