ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) (rs397517981)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041728 SCV000065424 pathogenic Rare genetic deafness 2011-11-30 criteria provided, single submitter clinical testing The Tyr4238X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. The Tyr4238X variant leads to a premature sto p codon at position 4238, which is predicted to lead to a truncated or absent pr otein. In summary, this variant meets our criteria to be classified as pathogeni c.

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