Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009180 | SCV001168998 | likely pathogenic | not provided | 2018-12-20 | criteria provided, single submitter | clinical testing | The c.630_633delAAAG likely pathogenic variant in the GAN gene causes a frameshift starting with codon Lysine 211, changes this amino acid to a Serine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Lys211SerfsX3. This likely pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA |