ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) (rs121908962)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000342783 SCV000329868 pathogenic not provided 2016-09-26 criteria provided, single submitter clinical testing The c.1555 G>A pathogenic variant in the DYSF gene has been previously reported in the homozygous state in two siblings with Miyoshi myopathy and absent dysferlin expression on Western blot. Additionally, it was observed in the heterozygous state in their father with calf myalgias and progressive difficulty with walking (Illa et al., 2007). Functional studies demonstrate the c.1555 G>A variant creates a new splice acceptor site resulting in an out-of-frame deletion of 35 base pairs in exon 18 (De Luna et al., 2007; Kergourlay et al., 2014). This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000342783 SCV000332008 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
OMIM RCV000007066 SCV000027262 pathogenic Miyoshi muscular dystrophy 1 2007-04-17 no assertion criteria provided literature only

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