ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) (rs777682016)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239524 SCV001412400 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 252 of the USH2A protein (p.Gly252Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs777682016, ExAC 0.003%). This variant has been observed in individuals affected with Usher syndrome or retinitis pigmentosa who have 2 other variants in USH2A, making the impact of the p.Gly252Cys variant unclear (PMID: 27032803, 29912909). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003289 SCV001161372 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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