ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) (rs397517966)

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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 RCV000041670 SCV000065366 likely benign not specified 2011-07-07 criteria provided, single submitter clinical testing Thr3506Met in exon 53 of USH2A: This variant is not expected to have clinical si gnificance because computational analyses (PolyPhen, SIFT, AlignGVGD, MAPP) do n ot suggest a high likelihood of impact to the protein primarily based upon a lac k of conservation across species including mammals. Of note, chimp and orangutan have a methionine at this position despite high nearby amino acid conservation.
Counsyl RCV000669162 SCV000793882 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-12 criteria provided, single submitter clinical testing

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