ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)

gnomAD frequency: 0.00001  dbSNP: rs762384558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669952 SCV000794755 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531241 SCV003524117 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 347 of the USH2A protein (p.Asp347Gly). This variant is present in population databases (rs762384558, gnomAD 0.0009%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 25558175, 33576794). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554336). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472120 SCV004200723 likely pathogenic Retinitis pigmentosa 39 2024-01-05 criteria provided, single submitter clinical testing

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