Submissions for variant NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)

gnomAD frequency: 0.00359  dbSNP: rs118083923

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078749	SCV000110609	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000078749	SCV000196841	benign	not specified	2018-02-16	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000428463	SCV000510951	benign	not provided	2017-01-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081152	SCV000658632	likely benign	LAMA2-related muscular dystrophy	2025-01-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000078749	SCV000842611	likely benign	not specified	2024-11-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157937	SCV001319543	uncertain significance	Congenital muscular dystrophy due to partial LAMA2 deficiency	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.
CeGaT Center for Human Genetics Tuebingen	RCV000428463	SCV002563921	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	LAMA2: BP4, BS2
Ambry Genetics	RCV002514385	SCV003711253	likely benign	Inborn genetic diseases	2021-07-19	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.
PreventionGenetics, part of Exact Sciences	RCV004528282	SCV000304123	benign	LAMA2-related disorder	2022-11-03	no assertion criteria provided	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000428463	SCV001799430	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000428463	SCV001966968	likely benign	not provided		no assertion criteria provided	clinical testing