ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr)

gnomAD frequency: 0.00001  dbSNP: rs773133837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295370 SCV001484288 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1319 of the USH2A protein (p.Pro1319Thr). This variant is present in population databases (rs773133837, 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: 999378). 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 not expected to disrupt 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.
Natera, Inc. RCV001836258 SCV002093914 uncertain significance Usher syndrome type 2A 2020-01-27 no assertion criteria provided clinical testing

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