ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter) (rs398123383)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000760398 SCV000230812 pathogenic not provided 2016-02-23 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626687 SCV000747390 pathogenic Elevated serum creatine phosphokinase; Myalgia; Exercise-induced myalgia 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000760398 SCV000890271 pathogenic not provided 2018-11-27 criteria provided, single submitter clinical testing The R2319X nonsense variant in the LAMA2 gene has been reported previously in the homozygous and compound heterozygous states in individuals with congenital muscular dystrophies (Pegoraro et al., 1998; Hayashi et al., 2001); Oliveira et al.,2018). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2319X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, we intepret R2319X as a pathogenic variant.
Counsyl RCV000178685 SCV000790777 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-04-07 no assertion criteria provided clinical testing

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