ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.949G>A (p.Gly317Arg)

dbSNP: rs727503222
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, Mass General Brigham Personalized Medicine RCV000151182 SCV000199005 uncertain significance not specified 2013-06-11 criteria provided, single submitter clinical testing The Gly317Arg variant in MYH14 has not been reported in individuals with hearing loss. Data from large population studies are insufficient to assess the frequen cy of this variant. Computational analyses (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for o r against an impact to the protein. In summary, additional data is needed to det ermine the clinical significance of this variant.

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.