ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) (rs397518032)

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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 RCV000041913 SCV000065609 likely benign not specified 2011-09-25 criteria provided, single submitter clinical testing Gln2615Arg in exon 41 of USH2A: This variant is not expected to have clinical si gnificance because computational analyses (PolyPhen2, SIFT, AlignGVGD) do not su ggest a high likelihood of impact to the protein primarily based upon a lack of conservation across species including mammals. Of note, opossum has an arginine at this position despite high nearby amino acid conservation.
Counsyl RCV000668816 SCV000793480 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-24 criteria provided, single submitter clinical testing

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