Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255773 | SCV000321635 | pathogenic | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing | The c.1397_1398delCA variant in the FGD4 gene causes a frameshift starting with codon Threonine 466, changes this amino acid to a Serine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Thr466SerfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is interpreted to be a pathogenic variant. |