ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)

gnomAD frequency: 0.00001  dbSNP: rs397517971
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041691 SCV000065387 uncertain significance not specified 2011-01-17 criteria provided, single submitter clinical testing The Gly3755Arg variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is conserved across mammalian species and computational analyses (PolyPhen2, SIFT, AlignGVGD, MAPP) suggest th at the Gly3755Arg variant may impact the protein. However, this information is n ot predictive enough to assume pathogenicity. In summary, the clinical significa nce of this variant cannot be determined with certainty at this time.
Counsyl RCV000669587 SCV000794356 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513593 SCV002990745 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 3755 of the USH2A protein (p.Gly3755Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs397517971, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 48370). 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 C15"). 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.
Genome-Nilou Lab RCV003450746 SCV004182121 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274943 SCV004182122 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274943 SCV001459526 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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