ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)

dbSNP: rs764839142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665399 SCV000789516 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390275 SCV001591953 pathogenic LAMA2-related muscular dystrophy 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1098*) 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 (rs764839142, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of congenital muscular dystrophy (PMID: 20207543). ClinVar contains an entry for this variant (Variation ID: 550611). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784232 SCV002016433 pathogenic not provided 2019-06-17 criteria provided, single submitter clinical testing

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