ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter)

dbSNP: rs2114593621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946798 SCV002240145 pathogenic LAMA2-related muscular dystrophy 2020-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1563*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LAMA2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003984866 SCV004801221 pathogenic Merosin deficient congenital muscular dystrophy 2024-03-14 criteria provided, single submitter research

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