ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1072G>A (p.Val358Met)

dbSNP: rs1271000541
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659866 SCV000781748 uncertain significance Waardenburg syndrome type 2A 2016-11-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000659866 SCV000845306 uncertain significance Waardenburg syndrome type 2A 2018-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195616 SCV001366015 uncertain significance not specified 2019-06-07 criteria provided, single submitter clinical testing The p.Val251Met variant in MITF has been previously identified in one individual with hearing loss and heterochromia iridium by our laboratory and was absent from large population studies. This variant has been reported in ClinVar (Variation ID 547535). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Val251Met variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PP4.
PreventionGenetics, part of Exact Sciences RCV003411566 SCV004111880 likely pathogenic MITF-related disorder 2023-03-27 criteria provided, single submitter clinical testing The MITF c.751G>A variant is predicted to result in the amino acid substitution p.Val251Met. This variant was reported in a patient with Waardenburg syndrome (Minami et al. 2019. PubMed ID: 30978479), and occurred de novo in a patient with bilateral sensorineural hearing loss (PreventionGenetics, internal data). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. We interpret this variant as likely pathogenic.

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.