ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1907G>A (p.Arg636His) (rs138017852)

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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 RCV000616006 SCV000711230 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing p.Arg636His in exon 18 of USH1C: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, the pika, Weddell seal, opossum, Tasmanian devil, and wallaby have a hist idine (His) at this position. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein.

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