Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000185994 | SCV000238953 | pathogenic | not provided | 2015-09-15 | criteria provided, single submitter | clinical testing | The c.1363delC pathogenic variant in the MCCC1 gene causes a frameshift starting with codon Leucine 455, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 68 of the new reading frame, denoted p.Leu455PhefsX68. This pathogenic 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 predicted to be a pathogenic variant. The variant is found in MCCC1 panel(s). |