Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003337993 | SCV004048485 | uncertain significance | Myofibrillar myopathy 4 | criteria provided, single submitter | clinical testing | The missense variant c.182C>T (p.Thr61Ile) in LDB3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr61Ile variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Thr at position 61 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Thr61Ile in LDB3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. |