ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)

dbSNP: rs1211739649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666391 SCV000790675 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796871 SCV000936403 pathogenic LAMA2-related muscular dystrophy 2022-11-28 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: 551353). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy, type 1A (PMID: 30055037). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1754*) 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).
Baylor Genetics RCV000666391 SCV004190483 pathogenic Merosin deficient congenital muscular dystrophy 2024-03-11 criteria provided, single submitter clinical testing

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