Submissions for variant NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)

gnomAD frequency: 0.00021  dbSNP: rs374888837

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000686730	SCV000814261	likely benign	LAMA2-related muscular dystrophy	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151352	SCV001312473	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.
Genetics and Genomics Program, Sidra Medicine	RCV001293225	SCV001434224	uncertain significance	Primary dilated cardiomyopathy		criteria provided, single submitter	research
GeneDx	RCV002462020	SCV002756574	uncertain significance	not provided	2022-11-17	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
Fulgent Genetics, Fulgent Genetics	RCV002493149	SCV002784722	uncertain significance	Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23	2021-10-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002544760	SCV003718125	uncertain significance	Inborn genetic diseases	2022-05-27	criteria provided, single submitter	clinical testing	The c.8905C>T (p.R2969C) alteration is located in exon 63 (coding exon 63) of the LAMA2 gene. This alteration results from a C to T substitution at nucleotide position 8905, causing the arginine (R) at amino acid position 2969 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.