ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) (rs727503329)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844721 SCV000199592 likely pathogenic Rare genetic deafness 2017-07-17 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV001214273 SCV001385948 pathogenic not provided 2019-08-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1298 of the MYO7A protein (p.Gly1298Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Usher syndrome and to segregate with disease (PMID: 29490346). ClinVar contains an entry for this variant (Variation ID: 164693). 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 C15"). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000151505 SCV000599834 pathogenic Usher syndrome type 1 2017-04-20 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV000151505 SCV001161148 likely pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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.