ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)

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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 RCV003340924 SCV004047780 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The missense variant c.362A>C (p.Gln121Pro) in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gln121Pro variant is not seen in population databases like gnomAD Exomes and 1000 Genomes. The amino acid Gln at position 121 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gln121Pro 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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