ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)

dbSNP: rs886061039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673285 SCV000798469 likely pathogenic Merosin deficient congenital muscular dystrophy 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531335 SCV003251989 pathogenic LAMA2-related muscular dystrophy 2022-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln21*) 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, 32904964). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 557178). For these reasons, this variant has been classified as Pathogenic.

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