ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)

gnomAD frequency: 0.00008  dbSNP: rs748137104
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035077 SCV001198390 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2699 of the USH2A protein (p.Arg2699Gln). This variant is present in population databases (rs748137104, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 834400). 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. This variant disrupts the p.Arg2699 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been observed in individuals with USH2A-related conditions (PMID: 32188678), which suggests that this may be a clinically significant amino acid residue. 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 RCV001035077 SCV001981925 uncertain significance not provided 2021-12-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003160200 SCV003873592 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.8096G>A (p.R2699Q) alteration is located in exon 41 (coding exon 40) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 8096, causing the arginine (R) at amino acid position 2699 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455147 SCV004182845 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001832370 SCV004182846 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832370 SCV002090834 uncertain significance Usher syndrome type 2A 2020-03-18 no assertion criteria provided clinical testing

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