ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14516C>T (p.Thr4839Met) (rs139065588)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041763 SCV000065459 likely benign not specified 2015-08-26 criteria provided, single submitter clinical testing p.Thr4839Met in exon 66 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 8 mammals have a methionine at this position despite high nearby amino ac id conservation. This variant has been identified in 12/121404 total chromosome s by the Exome Aggregation Consortium and was present in several populations (Ex AC, http://exac.broadinstitute.org; dbSNP rs139065588).
Counsyl RCV000665634 SCV000789787 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-17 criteria provided, single submitter clinical testing

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