Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000220669 | SCV000274533 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-12 | criteria provided, single submitter | clinical testing | The p.G511* pathogenic mutation (also known as c.1531G>T), located in coding exon 11 of the APC gene, results from a G to T substitution at nucleotide position 1531. This changes the amino acid from a glycine to a stop codon within coding exon 11. 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. |
Invitae | RCV003765410 | SCV002230237 | pathogenic | Familial adenomatous polyposis 1 | 2021-01-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 230854). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly511*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). |