Submissions for variant NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)

gnomAD frequency: 0.00137  dbSNP: rs13082063

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000649528	SCV000771357	benign	Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149695	SCV001310674	uncertain significance	LAMB2-related infantile-onset nephrotic 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.
Illumina Laboratory Services, Illumina	RCV001149696	SCV001310675	uncertain significance	Pierson 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	RCV001662706	SCV001875064	likely benign	not provided	2021-03-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20556798)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294362	SCV002587422	likely benign	Focal segmental glomerulosclerosis	2019-10-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001662706	SCV004154540	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	LAMB2: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001662706	SCV001926746	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001662706	SCV001967765	likely benign	not provided		no assertion criteria provided	clinical testing