Submissions for variant NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)

gnomAD frequency: 0.00069  dbSNP: rs73035708

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001131854	SCV001291496	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics	RCV001131854	SCV001527071	uncertain significance	Donnai-Barrow syndrome	2018-07-31	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV001412205	SCV001614283	likely benign	not provided	2024-11-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001131854	SCV002055202	uncertain significance	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001412205	SCV003852775	uncertain significance	not provided	2024-10-30	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
CeGaT Center for Human Genetics Tuebingen	RCV001412205	SCV004698914	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004986830	SCV005612748	likely benign	Inborn genetic diseases	2024-08-01	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.
Fulgent Genetics, Fulgent Genetics	RCV001131854	SCV005652655	uncertain significance	Donnai-Barrow syndrome	2024-04-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003963071	SCV004790357	likely benign	LRP2-related disorder	2024-01-05	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).