ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4379del (p.Lys1460fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226673 SCV003922657 likely pathogenic LAMA2-related muscular dystrophy 2023-03-15 criteria provided, single submitter clinical testing Variant summary: LAMA2 c.4379delA (p.Lys1460ArgfsX14) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory and in ClinVar. The variant was absent in 250866 control chromosomes (gnomAD). To our knowledge, no occurrence of c.4379delA in individuals affected with Laminin Alpha 2-Related Dystrophy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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