ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.342del (p.Ala116fs) (rs886042379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000593550 SCV000790869 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2017-04-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000377821 SCV000333723 pathogenic not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV000532444 SCV000649660 pathogenic Dysferlinopathy 2016-10-08 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the DYSF mRNA (c.339delA), causing a frameshift at codon 115. This creates a premature translational stop signal (p.Ala115Profs*36) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in DYSF are known to be pathogenic (PMID: 17698709). For these reasons, this variant has been classified as Pathogenic.

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