Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522692 | SCV000619006 | likely pathogenic | not provided | 2017-07-18 | criteria provided, single submitter | clinical testing | The c.370_373delCCCC variant in the FTL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.370_373delCCCC variant causes a frameshift starting with codon Proline 124, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Pro124IlefsX11. This variant is predicted to cause loss of normal protein function through protein truncation. The c.370_373delCCCC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.370_373delCCCC as a likely pathogenic variant. |