ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)

dbSNP: rs866592573
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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 RCV000614572 SCV000713493 uncertain significance not specified 2017-08-17 criteria provided, single submitter clinical testing The p.Leu1582Phe variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, or in large population studies. Computati onal prediction tools and conservation analyses suggest that this variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Leu1582Phe variant is uncertain.
Invitae RCV001868031 SCV002122604 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1582 of the USH2A protein (p.Leu1582Phe). 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: 506009). 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: "Probably 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 RCV003451376 SCV004182201 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451375 SCV004182202 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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