ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8431C>A (p.Pro2811Thr) (rs111033529)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041927 SCV000065623 uncertain significance not specified 2018-08-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro2811Thr va riant in USH2A has been reported by our laboratory in a family with hearing loss , however, it has been identified in 0.24% (39/16508) of South Asian chromosomes , including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs111033529). Computational prediction tools and con servation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, wh ile the clinical significance of the p.Pro2811Thr variant is uncertain, the freq uency data suggests it is more likely to be benign.
Counsyl RCV000664665 SCV000788666 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-04 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505137 SCV000598834 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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