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

gnomAD frequency: 0.00013  dbSNP: rs376314751

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	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
Natera, Inc.	RCV001273053	SCV001455640	uncertain significance	Usher syndrome type 2A	2020-01-17	no assertion criteria provided	clinical testing