ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)

gnomAD frequency: 0.00001  dbSNP: rs201394390
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669591 SCV000794360 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826079 SCV000967574 uncertain significance not specified 2019-02-05 criteria provided, single submitter clinical testing The p.Gln2951Glu variant in USH2A has been reported in 1 individual with retinitis pigmentosa who also had two additional variants of uncertain significance in USH2A (Carss 2017). This variant has been reported in ClinVar (Variation ID 438029), and it has also been identified in 0.01% (1/8708) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857207 SCV002119817 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 2951 of the USH2A protein (p.Gln2951Glu). This variant is present in population databases (rs201394390, gnomAD 0.01%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438029). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt USH2A protein function. 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.
GeneDx RCV001857207 SCV003933167 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28041643)
Genome-Nilou Lab RCV003449427 SCV004182762 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834623 SCV004182763 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504737 SCV000598835 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001834623 SCV002090802 uncertain significance Usher syndrome type 2A 2020-09-29 no assertion criteria provided clinical testing

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