Submissions for variant NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro)

gnomAD frequency: 0.00049  dbSNP: rs188918037

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194145	SCV000247859	benign	not specified	2022-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374226	SCV000419012	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000423936	SCV000511726	likely benign	not provided	2016-12-30	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000423936	SCV001113432	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000374226	SCV002054540	likely benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907696	SCV004726258	benign	LRP2-related condition	2019-09-09	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).