ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) (rs397517968)

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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 RCV000041675 SCV000065371 uncertain significance not specified 2016-09-15 criteria provided, single submitter clinical testing The p.Gly3556Glu variant in USH2A has not been reported in any individual with h earing loss in any other families or in large population studies. The Glycine (G ly) at position 3556 is not conserved in mammals or evolutionary distant species , and 2 mammals (black flying fox and megabat) carry a glutamic acid (Glu), rais ing the possibility that such a change at this position may be tolerated. Additi onal computational prediction tools suggest that this variant may impact the pro tein, though this information is not predictive enough to determine pathogenicit y. In summary, the clinical significance of the p.Gly3556Glu variant is uncertai n.
Counsyl RCV000671427 SCV000796402 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075735 SCV001241364 uncertain significance Retinal dystrophy 2019-05-20 criteria provided, single submitter clinical testing

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