ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5374G>T (p.Glu1792Ter) (rs746201268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255424 SCV000322307 pathogenic not provided 2016-05-09 criteria provided, single submitter clinical testing The E1792X pathogenic variant in the LAMA2 gene has been reported previously in one individual with congenital muscular dystrophy, although a second pathogenic variant was not identified in this individual (Beytia et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E1792X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret E1792X as a pathogenic variant.
Invitae RCV000684848 SCV000812308 pathogenic Laminin alpha 2-related dystrophy 2018-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1792*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with congenital muscular dystrophy, however no second variant was detected (PMID:24225367). ClinVar contains an entry for this variant (Variation ID: 265425). Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.

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