ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) (rs727505170)

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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 RCV000156650 SCV000206371 likely benign not specified 2014-07-08 criteria provided, single submitter clinical testing p.Arg4092Lys in exon 62 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, mouse, cat, Tasmanian devil, platypus, and several reptiles have a lysine (Lys) at this position despite high nearby amino acid conservation. In addition , computational prediction tools do not suggest a high likelihood of impact to t he protein.
Counsyl RCV000666738 SCV000791088 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-20 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000156650 SCV000221363 likely benign not specified 2016-09-28 no assertion criteria provided research

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