ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)

gnomAD frequency: 0.00001  dbSNP: rs201631375
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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 RCV001056600 SCV001221050 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 4718 of the USH2A protein (p.Ala4718Glu). This variant is present in population databases (rs201631375, gnomAD 0.0009%). 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: 852059). Invitae Evidence 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 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.
Fulgent Genetics, Fulgent Genetics RCV002482016 SCV002792904 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455255 SCV004183098 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276151 SCV004183099 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276151 SCV001462005 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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