ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)

gnomAD frequency: 0.00014  dbSNP: rs143319658
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042728 SCV001206428 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1125 of the USH2A protein (p.Ile1125Met). This variant is present in population databases (rs143319658, gnomAD 0.03%). 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: 840677). 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. 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.
Blueprint Genetics RCV001073676 SCV001239229 uncertain significance Retinal dystrophy 2019-08-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455174 SCV004182347 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271231 SCV004182348 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001042728 SCV004224788 uncertain significance not provided 2021-11-22 criteria provided, single submitter clinical testing PM2_supporting
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001042728 SCV004563717 uncertain significance not provided 2023-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271231 SCV001452240 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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