ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)

dbSNP: rs781195579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352306 SCV001546853 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 4763 of the USH2A protein (p.Gly4763Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 1047575). 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 expected to disrupt USH2A protein function. This variant disrupts the p.Gly4763 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25649381, 27460420). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Natera, Inc. RCV001825980 SCV002088231 uncertain significance Usher syndrome type 2A 2020-03-11 no assertion criteria provided clinical testing

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