ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter) (rs747349942)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255824 SCV000322308 pathogenic not provided 2017-07-31 criteria provided, single submitter clinical testing The R1826X nonsense variant in the LAMA2 gene has been reported previously in trans with a pathogenic variant in two siblings with muscular dystrophy who had partial merosin deficiency on muscle immunostaining (Naom et al., 1998). The R1826X variant has also been reported multiple times in association with congenital muscular dystrophy (Geranmayeh et al., 2010; Xiong et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, R1826X is considered a pathogenic variant.
Invitae RCV000548471 SCV000658710 pathogenic Laminin alpha 2-related dystrophy 2018-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1826*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747349942, ExAC 0.001%). This variant has been reported in several individuals affected with limb-girdle muscular dystrophy (PMID: 9829280, 25214167) and congenital muscular dystrophy (PMID: 24611677, 20207543). This variant is also known as c.5525C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 265426). Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000666714 SCV000791057 pathogenic Merosin deficient congenital muscular dystrophy 2017-04-26 no assertion criteria provided clinical testing

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