ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) (rs781988557)

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 RCV000154343 SCV000204006 likely pathogenic Rare genetic deafness 2014-07-14 criteria provided, single submitter clinical testing The Gly955Ser in MYO7A has been previously reported in two individuals with Ushe r syndrome (Levy 1997, Jacobson 2009). One individual had an affected sibling wh o was also heterozygous for this variant (Levy 1997), and the other individual w as also found to carry a second pathogenic variant in MYO7A (Jacobson 2009). Thi s variant was absent from large population studies. Conservation analyses sugges t this variant may not impact the protein, due to the presence of serine (Ser) i n several mammals at this position. However, splicing prediction tools suggest t he creation of a cryptic donor splice site; though, this information is not pred ictive enough to determine pathogenicity. In summary, although additional studie s are required to fully establish its clinical significance, this variant is lik ely pathogenic based on the previous reports and its presence in trans with a pa thogenic variant in this individual.

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.