ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1693-6T>A (rs886039573)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254712 SCV000322446 pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing The c.1639-6T>A pathogenic variant in the DYSF gene has been reported previously in association with DYSF-related disorders when present in the homozygous state or when seen with another variant (Kesper et al., 2009; Ankala et al., 2014; Cacciottolo et al., 2011). Functional studies demonstrate the use of a cryptic acceptor site of intron 19 that results in the retention of 4 base pairs of intronic DNA, which is predicted to result in a truncated protein (Cacciottolo et al., 2011; Kergourlay et al., 2014). The c.1639-6T>A 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. We interpret c.1639-6T>A as a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254712 SCV000706720 pathogenic not provided 2018-03-20 criteria provided, single submitter clinical testing
Counsyl RCV000597734 SCV000789344 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2017-02-01 no assertion criteria provided clinical testing

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