Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003340789 | SCV004047510 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | criteria provided, single submitter | clinical testing | The missense variant c.3646A>G (p.Thr1216Ala) in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr1216Ala variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Thr at position 1216 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Thr1216Ala in DYSF is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS). In the absence of second reportable variant/CNV, the molecular diagnosis is not confirmed. |