ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) (rs397516311)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036152 SCV000059804 uncertain significance not specified 2012-08-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg1526His vari ant in MYO7A has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, and PolyPhen2) do not provide strong support for an impact to the protein; however, this information does not rule out pathogenicity. In s ummary, the clinical significance of this variant cannot be determined with cert ainty; however, we would lean towards a more likely benign role given the comput ation data.

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.