ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg)

gnomAD frequency: 0.00001  dbSNP: rs781685696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245314 SCV001418595 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2561 of the USH2A protein (p.Gly2561Arg). This variant is present in population databases (rs781685696, gnomAD 0.006%). 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: 969874). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C65". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV004034820 SCV004975834 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.7681G>A (p.G2561R) alteration is located in exon 41 (coding exon 40) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 7681, causing the glycine (G) at amino acid position 2561 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835234 SCV002090849 uncertain significance Usher syndrome type 2A 2020-02-21 no assertion criteria provided clinical testing

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