Submissions for variant NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)

gnomAD frequency: 0.00171  dbSNP: rs35942532

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195081	SCV000247857	uncertain significance	not specified	2014-08-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387234	SCV000419026	uncertain significance	Donnai-Barrow syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000766599	SCV000570209	uncertain significance	not provided	2020-07-17	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000766599	SCV001026261	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000387234	SCV002054585	uncertain significance	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000766599	SCV004147234	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	LRP2: BS2
PreventionGenetics, part of Exact Sciences	RCV003907695	SCV004720112	likely benign	LRP2-related condition	2022-02-24	criteria provided, single submitter	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).