ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)

gnomAD frequency: 0.00001  dbSNP: rs1378799607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268038 SCV001446633 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001268038 SCV002289804 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 986887). This missense change has been observed in individuals with retinitis pigmentosa and/or Usher syndrome (PMID: 23591405, 32531858). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 59 of the USH2A protein (p.Gly59Glu). 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.
Baylor Genetics RCV003462845 SCV004207711 likely pathogenic Retinitis pigmentosa 39 2023-10-28 criteria provided, single submitter clinical testing

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