ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) (rs199818783)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665432 SCV000789556 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-02-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036039 SCV000059691 uncertain significance not specified 2013-05-07 criteria provided, single submitter clinical testing The Arg378Cys variant in MYO7A has been previously identified by our laboratory in one individual with Usher syndrome; however, the variant was heterozygous in this individual and a second MYO7A variant was not detected (LMM unpublished da ta). It has also been identified in 0.04% (3/8378) of European American chromos omes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS; db SNP rs199818783). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational a nalyses (biochemical, amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein . In summary, additional information is needed to determine the clinical signifi cance 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.