Submissions for variant NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)

gnomAD frequency: 0.00009  dbSNP: rs142671449

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253127	SCV000304133	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726006	SCV000341181	uncertain significance	not provided	2016-05-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355209	SCV000460019	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086525	SCV001012825	likely benign	LAMA2-related muscular dystrophy	2024-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000726006	SCV001750867	likely benign	not provided	2020-05-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30055037)
CeGaT Center for Human Genetics Tuebingen	RCV000726006	SCV004160281	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	LAMA2: BP4, BP7