ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5563-2A>G

dbSNP: rs786204779
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000169663 SCV000221193 likely pathogenic Merosin deficient congenital muscular dystrophy 2014-01-20 criteria provided, single submitter clinical testing The c.5563-2A>G variant in LAMA2 has not been reported in individuals with congenital muscular dystrophy type 1A or in large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Several other splice variants in the gene have been shown to be pathogenic in LAMA2, causing autosomal recessive muscular dystrophy, merosin deficient. In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.

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