Submissions for variant NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV002309340	SCV002603151	likely pathogenic	Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23	2021-12-05	criteria provided, single submitter	clinical testing	NM_000426.3(LAMA2):c.1233C>A(C411*) is expected to be pathogenic in the context of muscular dystrophy, LAMA2-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in LAMA2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics	RCV003471327	SCV004190535	likely pathogenic	Merosin deficient congenital muscular dystrophy	2023-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003581818	SCV004368456	pathogenic	LAMA2-related muscular dystrophy	2023-05-10	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1725656). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys411*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964).