ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1961G>A (p.Arg654His)

dbSNP: rs41298143
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 RCV001208944 SCV001380360 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 654 of the MYO7A protein (p.Arg654His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs41298143, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen RCV001208944 SCV001501370 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001208944 SCV002002298 uncertain significance not provided 2020-07-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001833836 SCV002086594 uncertain significance Usher syndrome type 1B 2020-03-17 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.