ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8177G>A (p.Gly2726Glu) (rs549796389)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000710332 SCV000840525 uncertain significance Usher syndrome 2018-09-28 reviewed by expert panel curation The p.Gly2726Glu variant in USH2A was identified in 0.003% (3/111282) of European chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org), which is a low enough frequency to award PM2 based on the thresholds defined by the ClinGen Hearing Loss Expert Panel autosomal recessive hearing loss (PM2). In summary, the clinical significance of this variant is uncertain. ACMG/AMG criteria applied: PM2.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156334 SCV000206052 uncertain significance not specified 2014-02-06 criteria provided, single submitter clinical testing The Gly2726Glu variant in USH2A has not been previously reported in individuals with hearing loss or in large population studies. The amino acid residue at this position is not conserved in several species suggesting that variants at this p osition may be tolerated; however, computational analyses (AlignGVGD, PolyPhen2, and SIFT) predict that the variant may impact the protein. In summary, addition al information is needed to fully assess the clinical significance of this varia nt.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000156334 SCV000297412 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing
Counsyl RCV000668449 SCV000793055 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-27 criteria provided, single submitter clinical testing

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