ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)

gnomAD frequency: 0.00001  dbSNP: rs949082769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314424 SCV001504958 pathogenic not provided 2022-11-15 criteria provided, single submitter clinical testing This variant disrupts the p.Ser391 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been observed in individuals with USH2A-related conditions (PMID: 24944099), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 1015542). This missense change has been observed in individual(s) with clinical features of Usher syndrome (PMID: 15325563; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 391 of the USH2A protein (p.Ser391Ile). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001830281 SCV002094000 uncertain significance Usher syndrome type 2A 2021-08-18 no assertion criteria provided clinical testing

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