Submissions for variant NM_003489.4(NRIP1):c.2201G>A (p.Arg734Lys)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003577525	SCV004367662	uncertain significance	not provided	2023-06-29	criteria provided, single submitter	clinical testing	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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with NRIP1-related conditions. This variant is present in population databases (rs147293713, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 734 of the NRIP1 protein (p.Arg734Lys).
PreventionGenetics, part of Exact Sciences	RCV003929209	SCV004742416	likely benign	NRIP1-related disorder	2023-04-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).