Submissions for variant NM_000326.5(RLBP1):c.362G>A (p.Arg121Gln)

gnomAD frequency: 0.00002  dbSNP: rs139108078

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002043825	SCV002312621	uncertain significance	not provided	2022-08-31	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 121 of the RLBP1 protein (p.Arg121Gln). This variant is present in population databases (rs139108078, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with RLBP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1519943). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	RCV003324583	SCV004030296	uncertain significance	Congenital stationary night blindness	2023-07-24	criteria provided, single submitter	research	Clinical significance based on ACMG v2.0