ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)

gnomAD frequency: 0.00002  dbSNP: rs267598369
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245182 SCV001418453 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 5183 of the USH2A protein (p.Ala5183Thr). This variant is present in population databases (rs267598369, gnomAD 0.03%). 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: 969763). 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.
Fulgent Genetics, Fulgent Genetics RCV002480833 SCV002787515 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449772 SCV004182564 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829950 SCV004182575 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829950 SCV002088183 uncertain significance Usher syndrome type 2A 2020-04-28 no assertion criteria provided clinical testing

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