ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys)

gnomAD frequency: 0.00001  dbSNP: rs781869469
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
Invitae RCV001055480 SCV001219874 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 834 of the MYO7A protein (p.Arg834Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 851143). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYO7A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449826 SCV001653127 uncertain significance not specified 2020-06-01 criteria provided, single submitter clinical testing The p.Arg834Cys variant in MYO7A has not been previously reported in individuals with hearing loss but has been identified in 0.012% of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
CeGaT Center for Human Genetics Tuebingen RCV001055480 SCV001746093 uncertain significance not provided 2021-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827353 SCV002086626 uncertain significance Usher syndrome type 1B 2020-03-10 no assertion criteria provided 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.