Submissions for variant NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)

gnomAD frequency: 0.00067  dbSNP: rs141340479

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000520035	SCV000618867	uncertain significance	not provided	2023-04-18	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086334	SCV000658807	likely benign	LAMA2-related muscular dystrophy	2024-01-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764621	SCV000895729	uncertain significance	Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153657	SCV001314957	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.
Revvity Omics, Revvity	RCV000520035	SCV003808191	uncertain significance	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000520035	SCV005407982	uncertain significance	not provided	2024-01-31	criteria provided, single submitter	clinical testing	BP4