ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)

gnomAD frequency: 0.00001  dbSNP: rs940913250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002047005 SCV002111443 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1815 of the USH2A protein (p.Ser1815Gly). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 1349554). 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 with a negative predictive value of 95%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002478103 SCV002782568 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451981 SCV004181807 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451980 SCV004181808 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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