ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)

dbSNP: rs768090444
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center RCV000660878 SCV000778372 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-07-15 criteria provided, single submitter research c.2242C>G (p.Arg748Gly) mutation was identified in a patient diagnosed with Limb girdle muscular dystrophy type 2A (LGMD2A). The diagnosis of LGMD2A was first suspected on the basis of a typical clinical localization of the muscle weakness and further confirmed by immunoblotting and molecular analysis. His family history is pertinent as his parents are maternal cousins, and one his two brothers showed similar but more advanced symptoms.

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