ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) (rs878853406)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669040 SCV000793738 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV001237137 SCV001409888 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 4481 of the USH2A protein (p.Arg4481Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Usher syndrome or retinitis pigmentosa (PMID: 24944099, Invitae). ClinVar contains an entry for this variant (Variation ID: 236535). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225593 SCV000282645 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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