ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) (rs886042895)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596878 SCV000700985 likely pathogenic not provided 2017-05-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778428 SCV000914669 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-07-27 criteria provided, single submitter clinical testing The CAPN3 c.1256A>G (p.Asp419Gly) variant is a missense variant that has been reported in at least one study, in which it is found in a compound heterozygous state with a second inframe deletion in an individual with calpainopathy, or limb-girdle muscular dystrophy 2A. This patient demonstrated normal amounts of calpain 3 bands but reduced 30 kDa bands on western blot (Groen et al. 2007). The p.Asp419Gly variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence, the p.Asp419Gly variant is classified as a variant of unknown significance but suspicious for pathogenicity for calpainopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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