ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly)

gnomAD frequency: 0.00003  dbSNP: rs775877218
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351730 SCV001546224 uncertain significance not provided 2024-01-20 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 1981 of the USH2A protein (p.Arg1981Gly). This variant is present in population databases (rs775877218, gnomAD 0.05%). 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: 1047066). 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) performed at Invitae indicates that this missense variant is not expected to disrupt USH2A protein function with a negative predictive value of 95%. 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.
GeneDx RCV001351730 SCV003933443 uncertain significance not provided 2024-02-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20440071)
Genome-Nilou Lab RCV003449988 SCV004181742 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001831174 SCV004181743 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831174 SCV002091554 uncertain significance Usher syndrome type 2A 2020-12-08 no assertion criteria provided clinical testing

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