ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6992+5G>A (rs1221715098)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673048 SCV000798214 uncertain significance Merosin deficient congenital muscular dystrophy 2018-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000657979 SCV000779750 likely pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing The c.6992+5G>A variant in the LAMA2 gene has been reported previously in the heterozygous state with a second LAMA2 variant in an individual with limb girdle muscular dystrophy, however, segregation studies to confirm phase were only performed on one parent (Harris et al., 2017). This variant is predicted to destroy the splice donor site in intron 49. Both in silico predictors and evolutionary conservation support a deleterious effect in this gene for which loss-of-function is a known mechanism for disease. The c.6992+5G>A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.6992+5G>A as a likely pathogenic variant.

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