ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.304+2T>C

dbSNP: rs746238617
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169595 SCV000221105 likely pathogenic Pendred syndrome 2015-01-30 criteria provided, single submitter literature only
Invitae RCV001041501 SCV001205122 pathogenic not provided 2023-04-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the SLC26A4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 189167). Disruption of this splice site has been observed in individual(s) with SLC26A4 related conditions (PMID: 19287372, 28281779). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs746238617, gnomAD 0.0009%).
Genome-Nilou Lab RCV000169595 SCV002026587 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001041501 SCV002562372 pathogenic not provided 2022-08-05 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele 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: 25525159, 26186295, 28281779, 19287372)
Baylor Genetics RCV003474918 SCV004204213 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-02-17 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.