ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) (rs143696882)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213372 SCV000272886 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala4049Thr va riant in USH2A has not been previously reported in individuals with hearing loss , but has been identified in 0.2% (17/10368) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143696882 ). Computational prediction tools and conservation analysis do not provide stron g support for or against an impact to the protein. In summary, the clinical sign ificance of this variant cannot be determined with certainty; however, the frequ ency data suggest that it is more likely to be benign.
Counsyl RCV000669630 SCV000794403 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-26 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074362 SCV001239938 uncertain significance Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504751 SCV000598772 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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