ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile)

gnomAD frequency: 0.00001  dbSNP: rs1401744202
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000606109 SCV000712288 uncertain significance not specified 2016-06-30 criteria provided, single submitter clinical testing The p.Val3914Ile variant in USH2A has not been previously reported in individual s with hearing loss or in large population studies. Computational prediction too ls and conservation analyses suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, the clinical significance of the p.Val3914Ile variant is uncertain.
Invitae RCV001370845 SCV001567388 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 3914 of the USH2A protein (p.Val3914Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 505157). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency).
Genome-Nilou Lab RCV003451367 SCV004182075 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451366 SCV004182076 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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