ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5290dup (p.Glu1764fs) (rs1415944134)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778777 SCV000915146 likely pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-12-10 criteria provided, single submitter clinical testing The LAMA2 c.5290dupG (p.Glu1764GlyfsTer3) variant results in a frameshift and is predicted to result in premature termination of the protein. It has been reported in two unrelated individuals with congenital muscular dystrophy, including in one in a homozygous state and in one in a compound heterozygous state (Geranmayeh et al. 2010; Ge et al. 2018). Control data are unavailable for this variant and the variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence and the potential impact of frameshift variants, the p.Glu1764GlyfsTer3 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.
Invitae RCV000796627 SCV000936147 pathogenic Laminin alpha 2-related dystrophy 2018-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1764Glyfs*3) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with congenital muscular dystrophy (PMID: 20207543). Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.

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