ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1448C>T (p.Thr483Met) (rs201847741)

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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 RCV000155979 SCV000205691 uncertain significance not specified 2015-05-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr483Met var iant in USH2A has been reported in 1 Chinese individual with retinitis pigmentos a; however, a variant affecting the remaining copy of USH2A was not identified ( Xu 2014). This variant has also been identified by our laboratory in the heteroz ygous state in 1 individual with profound sensorineural hearing loss. Furthermor e, this variant has been identified in 0.1% (11/16510) of South Asian chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs201847741). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, whi le the clinical significance of the p.Thr483Met variant is uncertain, available data suggest that it is more likely to be benign.
Counsyl RCV000666822 SCV000791179 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000943628 SCV001089581 likely benign not provided 2018-11-16 criteria provided, single submitter clinical testing

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