Submissions for variant NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)

gnomAD frequency: 0.00016  dbSNP: rs145885540

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000284205	SCV000460072	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536495	SCV000658749	benign	LAMA2-related muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712196	SCV000842630	uncertain significance	not provided	2019-05-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764631	SCV000895739	uncertain significance	Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23	2018-10-31	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293062	SCV001434044	uncertain significance	Primary dilated cardiomyopathy		criteria provided, single submitter	research
GeneDx	RCV000712196	SCV001999030	uncertain significance	not provided	2019-09-11	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30055037, 32403337)
Revvity Omics, Revvity	RCV000712196	SCV003815795	uncertain significance	not provided	2024-01-16	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003992282	SCV004809888	uncertain significance	Merosin deficient congenital muscular dystrophy	2024-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712196	SCV005189239	uncertain significance	not provided		criteria provided, single submitter	not provided