ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)

gnomAD frequency: 0.00001  dbSNP: rs1047559421
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001345870 SCV001540017 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2223 of the USH2A protein (p.Gly2223Ser). 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: 1041981). 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.
Ambry Genetics RCV003169679 SCV003877222 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.6667G>A (p.G2223S) alteration is located in exon 35 (coding exon 34) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 6667, causing the glycine (G) at amino acid position 2223 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449969 SCV004181634 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001825917 SCV004181635 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825917 SCV002090879 uncertain significance Usher syndrome type 2A 2020-09-03 no assertion criteria provided clinical testing

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