ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) (rs397516424)

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
ClinGen Hearing Loss Variant Curation Expert Panel RCV000675129 SCV001164252 likely pathogenic Pendred syndrome 2019-09-24 reviewed by expert panel curation The c.1963A>G (p.Ile655Val) variant in the SLC26A4 gene is present in .005% (2/34558) of Latino alleles in gnomAD (PM2). This variant has been detected in 2 probands patients with hearing loss and enlarged vestibular aqueducts (PP4; Laboratory for Molecular Medicine internal data, PMID: 26894580). In one of those probands, a pathogenic or suspected-pathogenic variant (VCV000004818.5) was observed in trans, and the variant was observed in the homozygous state in the other proband (PM3; Laboratory for Molecular Medicine internal data, PMID: 26894580). The compound heterozygous individual had an affected sibling in whom both variants segregated (PP1; Laboratory for Molecular Medicine internal data). In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Pendred Syndrome based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel (PM2, PP4, PM3, PP1).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036463 SCV000060118 likely pathogenic Rare genetic deafness 2019-02-06 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Counsyl RCV000675129 SCV000800699 uncertain significance Pendred syndrome 2018-04-19 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.