Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017637 | SCV001178746 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing | The p.S279* pathogenic mutation (also known as c.836C>A), located in coding exon 7 of the FANCC gene, results from a C to A substitution at nucleotide position 836. This changes the amino acid from a serine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |