ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003074963 SCV003461760 likely benign Qualitative or quantitative defects of dysferlin 2023-12-20 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003340619 SCV004048546 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The missense variant in c.5183C>T(p.Pro1728Leu) in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has allele frequency 0.001194% in the gnomAD and novel in 1000 genome database. The amino acid Pro at position 1728 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Pro1728Leu in DYSF is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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