ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)

gnomAD frequency: 0.00006  dbSNP: rs375278546
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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 RCV000826077 SCV000967572 uncertain significance not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Glu2242Lys variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 8/126404 Europ ean chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational pred iction tools and conservation analysis do not provide strong support for or agai nst an impact to the protein. In summary, the clinical significance of this vari ant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Fulgent Genetics, Fulgent Genetics RCV002495194 SCV002779436 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536080 SCV003454325 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2242 of the USH2A protein (p.Glu2242Lys). This variant is present in population databases (rs375278546, gnomAD 0.006%). 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: 667357). 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 disruptive. 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 RCV003453756 SCV004181621 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001830847 SCV004181622 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830847 SCV002090873 uncertain significance Usher syndrome type 2A 2020-02-26 no assertion criteria provided clinical testing

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