Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491546 | SCV000579911 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-09-14 | criteria provided, single submitter | clinical testing | The p.S2302* pathogenic mutation (also known as c.6905C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 6905. This changes the amino acid from a serine to a stop codon within coding exon 15. This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |