Submissions for variant NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)

gnomAD frequency: 0.00007  dbSNP: rs201630132

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001247912	SCV001421364	uncertain significance	not provided	2022-09-06	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 5119 of the USH2A protein (p.Arg5119Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 23591405). ClinVar contains an entry for this variant (Variation ID: 971993). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen	RCV001247912	SCV004125590	uncertain significance	not provided	2023-10-01	criteria provided, single submitter	clinical testing	USH2A: PM2:Supporting, BP4
Genome-Nilou Lab	RCV003449798	SCV004182853	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001830026	SCV004183192	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001830026	SCV002088190	uncertain significance	Usher syndrome type 2A	2020-04-03	no assertion criteria provided	clinical testing