ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)

dbSNP: rs778505422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373900 SCV001570639 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1342 of the USH2A protein (p.Val1342Leu). This variant is present in population databases (rs778505422, gnomAD 0.007%). This missense change has been observed in individual(s) with USH2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1063996). 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.
GeneDx RCV001373900 SCV002546577 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003450030 SCV004182280 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450029 SCV004182281 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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