ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)

dbSNP: rs770790346
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Total submissions: 5
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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 RCV000825493 SCV000966796 uncertain significance not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Ile1520Phe variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome but has been identified in 1/33492 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org). Computational prediction tools and conservation analysis suggest that the p.Ile1520Phe variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical signi ficance of the p.Ile1520Phe variant is uncertain. ACMG/AMP Criteria applied: PM2 , BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538220 SCV003475546 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1520 of the USH2A protein (p.Ile1520Phe). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 666952). 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. 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.
Genome-Nilou Lab RCV003453745 SCV004182225 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276256 SCV004182226 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276256 SCV001462266 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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