ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter)

gnomAD frequency: 0.00002  dbSNP: rs868019991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814340 SCV001755127 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568237 SCV002959572 pathogenic LAMA2-related muscular dystrophy 2023-08-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1180611). This sequence change creates a premature translational stop signal (p.Arg84*) 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 present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with LAMA2-related conditions (PMID: 32154989).
Baylor Genetics RCV003470856 SCV004190521 pathogenic Merosin deficient congenital muscular dystrophy 2023-04-05 criteria provided, single submitter clinical testing

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