ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)

gnomAD frequency: 0.00013  dbSNP: rs376314751
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061885 SCV001226645 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1566 of the USH2A protein (p.Gln1566Arg). This variant is present in population databases (rs376314751, 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: 856426). 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.
Baylor Genetics RCV001330640 SCV001522383 uncertain significance Retinitis pigmentosa 39 2020-12-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001330640 SCV004182212 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273053 SCV004182213 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030440 SCV004975820 uncertain significance Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.4697A>G (p.Q1566R) alteration is located in exon 22 (coding exon 21) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 4697, causing the glutamine (Q) at amino acid position 1566 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273053 SCV001455640 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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