ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) (rs111033259)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036150 SCV000059802 pathogenic Rare genetic deafness 2011-07-07 criteria provided, single submitter clinical testing The Glu1515_Met1517delinsAla variant in MYO7A has been identified in three proba nds with Usher syndrome (personal communication, W. Kimberling and two in our la boratory). The variant replaces three amino acids with a single new amino acid a nd is therefore likely to impact protein function. In addition, two probands hav e a second pathogenic variant in MYO7A which further supports a causative role. And finally, one proband?s affected sibling was also found to harbor both the 64 39-2A>G variant and this MYO7A variant and parental testing showed the variants were in trans (on two separate copies of the gene). In summary, this data suppor ts the classification of this variant as pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725794 SCV000339454 likely pathogenic not provided 2016-02-01 criteria provided, single submitter clinical testing
Invitae RCV000725794 SCV001412828 pathogenic not provided 2019-09-19 criteria provided, single submitter clinical testing This variant, c.4544_4551delinsCA, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acids in the MYO7A protein (p.Glu1515_Met1517delinsAla). This variant is present in population databases (rs770587090, ExAC 0.002%). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 27743452, 16963483, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.4543_4551delGAGATCATGinsGCA in the literature. ClinVar contains an entry for this variant (Variation ID: 43245). For these reasons, this variant has been classified as Pathogenic.

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.