ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.8245-2A>G (rs914395925)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414051 SCV000491204 pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing The c.8245-2 A>G pathogenic variant was previously reported in a patient with congenital muscular dystrophy type 1A, who harbored an additional LAMA2 variant (Beytia et al., 2014). This variant destroys the canonical splice acceptor site for intron 58. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subjected to nonsense-mediated mRNA decay, or to abnormal protein product if the message is used for protein translation. The c.8245-2 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations
Illumina Clinical Services Laboratory,Illumina RCV000779488 SCV000916121 likely pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-12-07 criteria provided, single submitter clinical testing The LAMA2 c.8245-2A>G variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The variant has been reported in two individuals affected with congenital muscular dystrophy, both in a compound heterozygous state with a deletion or stop-gained variant (Beytia et al. 2014; Oliveira et al. 2018). This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence and the potential impact of splice acceptor variants, the c.8245-2A>G variant is classified as likely pathogenic for LAMA2-related congenital muscular dystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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