ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5785-7G>A (rs753861836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000485381 SCV000610863 pathogenic not provided 2017-07-21 criteria provided, single submitter clinical testing
Counsyl RCV000331428 SCV000790468 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2017-03-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000485381 SCV000335600 pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000485381 SCV000567985 pathogenic not provided 2015-09-18 criteria provided, single submitter clinical testing The c.5668-7G>A splice site pathogenic variant in the DYSF gene has been previously reported in trans with another pathogenic DYSF variant in an individual with LGMD2B who had a 95% reduction in dysferlin protein expression (Cagliani et al., 2005; Kergourlay et al., 2014). Functional studies demonstrated that c.5668-7 G>A creates a cryptic splice acceptor site upstream of the natural acceptor site in intron 50 leading to the insertion of a Tryptophan residue and a premature stop codon at position 56 of the new reading frame, denoted p.Lys1889insTrpfsX56 (Cagliani et al.,2005). Additionally, many frameshift and splice site variants have been reported in the Human Gene Mutation Database in association with DYSF-related disorders (Stenson et al., 2014). Therefore, c.5668-7 G>A is considered a pathogenic variant.

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