Submissions for variant NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)

gnomAD frequency: 0.00055  dbSNP: rs140272085

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606310	SCV000728663	likely benign	not specified	2018-02-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000915081	SCV001060276	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000915081	SCV001152545	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LRP2: BS1, BS2
Illumina Laboratory Services, Illumina	RCV001128939	SCV001288435	uncertain significance	Donnai-Barrow syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV001128939	SCV002054718	likely benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000606310	SCV002067923	likely benign	not specified	2018-11-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002531658	SCV003719453	likely benign	Inborn genetic diseases	2021-09-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003928015	SCV004737413	benign	LRP2-related condition	2019-06-03	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000915081	SCV001799232	uncertain significance	not provided		no assertion criteria provided	clinical testing
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn	RCV001849407	SCV001934576	likely benign	DSD incomplete virilization	2021-09-01	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000915081	SCV001955241	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000915081	SCV001968138	uncertain significance	not provided		no assertion criteria provided	clinical testing