ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2479A>C (p.Asn827His)

gnomAD frequency: 0.00001  dbSNP: rs876658114
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Total submissions: 6
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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 RCV000215197 SCV000272895 uncertain significance not specified 2016-01-21 criteria provided, single submitter clinical testing The p.Asn827His variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome, or in large population studies. Computatio nal prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of t he p.Asn827His variant is uncertain.
Counsyl RCV000674556 SCV000799911 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518227 SCV002957889 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 827 of the USH2A protein (p.Asn827His). This variant is not present in population databases (gnomAD no frequency). 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: 229624). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV003454605 SCV004182430 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001835733 SCV004182431 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835733 SCV002093951 uncertain significance Usher syndrome type 2A 2020-07-14 no assertion criteria provided clinical testing

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