ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)

dbSNP: rs1480934961
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674609 SCV000799975 pathogenic Merosin deficient congenital muscular dystrophy 2018-05-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499190 SCV002806895 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2022-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531357 SCV003440017 pathogenic LAMA2-related muscular dystrophy 2023-01-17 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: 558356). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 18700894, 25124546). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asp2498Glufs*4) 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).
GeneDx RCV003126901 SCV003803388 pathogenic not provided 2022-08-10 criteria provided, single submitter clinical testing Observed with a second LAMA2 variant in a patient with congenital muscular dystrophy in the literature (Oliveira et al., 2008); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18700894, 25124546)

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