Submissions for variant NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)

gnomAD frequency: 0.00098  dbSNP: rs56035053

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178515	SCV000230610	uncertain significance	not provided	2015-02-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000192788	SCV000247812	uncertain significance	not specified	2015-04-05	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000178515	SCV000280638	uncertain significance	not provided	2015-09-29	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV000192788	SCV000304170	benign	not specified		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000509541	SCV000611393	uncertain significance	Merosin deficient congenital muscular dystrophy	2017-05-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549092	SCV000658733	likely benign	LAMA2-related muscular dystrophy	2025-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000178515	SCV000842624	uncertain significance	not provided	2020-03-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000178515	SCV000980463	likely benign	not provided	2021-05-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154910	SCV001316304	uncertain significance	Congenital muscular dystrophy due to partial LAMA2 deficiency	2018-01-13	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.
Ambry Genetics	RCV002516776	SCV003719267	likely benign	Inborn genetic diseases	2022-04-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV000178515	SCV004160299	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	LAMA2: BP4
Mayo Clinic Laboratories, Mayo Clinic	RCV000178515	SCV004223932	uncertain significance	not provided	2022-05-31	criteria provided, single submitter	clinical testing	BP4
GenomeConnect, ClinGen	RCV000509541	SCV000606884	not provided	Merosin deficient congenital muscular dystrophy		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252049	SCV001427797	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000178515	SCV001799962	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000178515	SCV001958887	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000178515	SCV002038289	likely benign	not provided		no assertion criteria provided	clinical testing
Undiagnosed Diseases Network, NIH	RCV000509541	SCV005368750	uncertain significance	Merosin deficient congenital muscular dystrophy	2024-06-13	no assertion criteria provided	clinical testing