ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)

gnomAD frequency: 0.00001  dbSNP: rs141098637
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365216 SCV001561479 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 3475 of the USH2A protein (p.Arg3475Gly). This variant is present in population databases (rs141098637, gnomAD 0.007%). This missense change has been observed in individuals with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1056394). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A protein function. 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.
Ambry Genetics RCV002550052 SCV003618592 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.10423A>G (p.R3475G) alteration is located in exon 53 (coding exon 52) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 10423, causing the arginine (R) at amino acid position 3475 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003450023 SCV004182561 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450022 SCV004182562 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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