Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000185995 | SCV000238954 | pathogenic | not provided | 2013-10-30 | criteria provided, single submitter | clinical testing | The c.2085delG mutation in the MCCC1 gene causes a frameshift starting with codon Valine 697, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Val697CysfsX15. This mutation is predicted to cause loss of normal protein function through protein truncation. Other frameshift mutations in this region of the MCCC1 gene have been reported as pathogenic. Although the c.2085delG mutation has not been previously reported to our knowledge, it is predicted to be a pathogenic mutation. The variant is found in MCCC1 panel(s). |