ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)

dbSNP: rs746201268
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Total submissions: 5
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000684848 SCV000812308 pathogenic LAMA2-related muscular dystrophy 2023-10-11 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. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 24225367). ClinVar contains an entry for this variant (Variation ID: 265425). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003463718 SCV004190515 pathogenic Merosin deficient congenital muscular dystrophy 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000255424 SCV004811856 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing LAMA2: PM3:Very Strong, PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV005031839 SCV005667101 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2024-03-12 criteria provided, single submitter clinical testing

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