ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)

gnomAD frequency: 0.00002  dbSNP: rs375744536
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074659 SCV001240251 uncertain significance Retinal dystrophy 2019-02-22 criteria provided, single submitter clinical testing
Invitae RCV001862572 SCV002228548 uncertain significance not provided 2021-11-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2367 of the USH2A protein (p.Gly2367Arg). This variant is present in population databases (rs375744536, gnomAD 0.02%). 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: 866563). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003380846 SCV004090150 uncertain significance Inborn genetic diseases 2023-09-14 criteria provided, single submitter clinical testing The c.7099G>A (p.G2367R) alteration is located in exon 37 (coding exon 36) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 7099, causing the glycine (G) at amino acid position 2367 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455371 SCV004181562 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455370 SCV004181563 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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