ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) (rs80338904)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379272 SCV001577043 likely pathogenic not provided 2020-08-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 4674 of the USH2A protein (p.Arg4674Gly). 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 individual(s) with retinitis pigmentosa (PMID: 17296898). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2362). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002458 SCV000022616 pathogenic Retinitis pigmentosa 39 2007-02-01 no assertion criteria provided literature only
GeneReviews RCV000032522 SCV000056185 pathologic Retinitis pigmentosa 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV000032522 SCV001161334 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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