ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5708C>G (p.Ser1903Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004764275 SCV005373533 likely pathogenic Merosin deficient congenital muscular dystrophy 2023-06-02 criteria provided, single submitter clinical testing The observed stop gained c.5708C>G(p.Ser1903Ter) variant in LAMA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Loss of function variants have been previously reported to be disease causing. Computational evidence (MutationTaster - Disease causing automatic) predicts damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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