ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1033+2T>C

dbSNP: rs886042617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264216 SCV000335467 pathogenic not provided 2015-10-06 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV003338500 SCV004046937 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The splice site variant c.1033+2T>C has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Pathogenic. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change in DYSF is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant affects an invariant splice nucleotide and is expected to cause loss of function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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