ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) (rs150597240)

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
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000346954 SCV000840520 uncertain significance Pendred syndrome 2018-09-28 reviewed by expert panel curation The allele frequency of the p.Thr764Met variant in SLC26A4 is 0.01% (3/24024) of African alleles and 0.007% (9/126592) of European (Non-Finnish) alleles by the Genome Aggregation Database (, which is a low enough frequency to award PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2_P). However, rarity/absence alone does not support a pathogenic classification. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2_P.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036482 SCV000060137 uncertain significance not specified 2012-07-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr764Met varia nt in SLC26A4 has not been reported in the literature nor previously identified by our laboratory. It has been identified in 0.01% (1/8600) of European America n chromosomes and 0.07% (3/4406) of African American chromosomes from a broad po pulation by the NHLBI Exome Sequencing Project ( /; dbSNP rs150597240), but this frequency is not high enough to rule out a patho genic role. Computational analyses (biochemical amino acid properties, conservat ion, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of this varian t cannot be determined without additional data.
Illumina Clinical Services Laboratory,Illumina RCV000289695 SCV000466109 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346954 SCV000466110 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764681 SCV000895812 uncertain significance Enlarged vestibular aqueduct; Pendred syndrome 2018-10-31 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.