Submissions for variant NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)

gnomAD frequency: 0.00086  dbSNP: rs146462599

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224668	SCV000281336	uncertain significance	not provided	2015-05-29	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Illumina Laboratory Services, Illumina	RCV000340277	SCV000459993	uncertain significance	Congenital muscular dystrophy due to partial LAMA2 deficiency	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	RCV000498838	SCV000589339	likely benign	not specified	2018-02-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529189	SCV000658803	benign	LAMA2-related muscular dystrophy	2025-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000224668	SCV000842634	uncertain significance	not provided	2018-06-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224668	SCV001154868	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	LAMA2: BS2
Genetic Services Laboratory, University of Chicago	RCV000498838	SCV002069798	uncertain significance	not specified	2019-03-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000224668	SCV002542222	uncertain significance	not provided	2023-01-05	criteria provided, single submitter	clinical testing	BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224668	SCV001799233	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224668	SCV001972832	uncertain significance	not provided		no assertion criteria provided	clinical testing