ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg)

gnomAD frequency: 0.00001  dbSNP: rs782313913
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674375 SCV000799700 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544671 SCV003439858 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1133 of the MYO7A protein (p.Gly1133Arg). This variant is present in population databases (rs782313913, gnomAD 0.01%). This missense change has been observed in individual(s) with MYO7A-related conditions (PMID: 28968992, 30358468). ClinVar contains an entry for this variant (Variation ID: 558149). 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 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.

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.