Submissions for variant NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)

gnomAD frequency: 0.00152  dbSNP: rs144322413

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732277	SCV000860209	uncertain significance	not provided	2018-03-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000732277	SCV001047980	likely benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807340	SCV002054740	uncertain significance	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002535262	SCV003683132	likely benign	Inborn genetic diseases	2021-08-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx	RCV000732277	SCV003845606	uncertain significance	not provided	2023-03-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003965535	SCV004784079	likely benign	LRP2-related disorder	2022-08-02	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).