ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) (rs760413427)

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
Invitae RCV001389158 SCV001590424 pathogenic not provided 2020-03-08 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 147 of the SLC26A4 protein (p.Met147Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs760413427, ExAC 0.01%). This variant has been observed in individual(s) with SLC26A4-related conditions (PMID: 15679828, 21961810, 14508505). This variant has been reported to affect SLC26A4 protein function (PMID: 20826203, 18310264). For these reasons, this variant has been classified as Pathogenic.
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV001004625 SCV000994869 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided clinical testing in vitro experiment
Precision Medicine Center,Zhengzhou University RCV001004625 SCV001572603 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct no assertion criteria provided research PP1: Segregation in one affected relative PM2_Supporting: gnomAD East Asian allele frequency = 0.0001087< 0.00007 PM3_VeryStrong: Pathogenic mutation confirmed in trans in three patients and phase unknown in six patients PP3: REVEL score >0.7 PP4: Patient's phenotype highly specific for gene

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.