ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389382 SCV004101541 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The inframe variant in c.3325_3333del in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1109_Arg1111del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This p.Arg1109_Arg1111del causes deletion of amino acid Arginine at position 1109 to Arginine at position 1111. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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