Submissions for variant NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)

gnomAD frequency: 0.00053  dbSNP: rs147185142

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000724876	SCV000196844	uncertain significance	not provided	2024-09-17	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga)	RCV000724876	SCV000332112	uncertain significance	not provided	2017-10-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549623	SCV000658756	likely benign	LAMA2-related muscular dystrophy	2024-01-24	criteria provided, single submitter	clinical testing
Counsyl	RCV000665052	SCV000789110	uncertain significance	Merosin deficient congenital muscular dystrophy	2017-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155019	SCV001316419	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000724876	SCV001715907	uncertain significance	not provided	2021-09-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492550	SCV002790102	uncertain significance	Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23	2021-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516011	SCV003682563	likely benign	Inborn genetic diseases	2022-05-27	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.
Revvity Omics, Revvity	RCV000724876	SCV003815769	uncertain significance	not provided	2023-09-12	criteria provided, single submitter	clinical testing