Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026242 | SCV001188584 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-21 | criteria provided, single submitter | clinical testing | The p.W243* pathogenic mutation (also known as c.729G>A), located in coding exon 7 of the FANCC gene, results from a G to A substitution at nucleotide position 729. This changes the amino acid from a tryptophan 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. |
Baylor Genetics | RCV003461417 | SCV004196655 | pathogenic | Fanconi anemia complementation group C | 2023-09-23 | criteria provided, single submitter | clinical testing |