Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003340939 | SCV004047812 | uncertain significance | Tibial muscular dystrophy | criteria provided, single submitter | clinical testing | The missense variant c.87781C>T (p.Pro29261Ser) in TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro29261Ser variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Pro at position 29261 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance . |