Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000505931 | SCV000600042 | pathogenic | not provided | 2016-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567238 | SCV000675931 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-02-28 | criteria provided, single submitter | clinical testing | The p.Q445* pathogenic mutation (also known as c.1333C>T), located in coding exon 10 of the APC gene, results from a C to T substitution at nucleotide position 1333. This changes the amino acid from a glutamine to a stop codon within coding exon 10. This mutation (designated p.Gln445X, c.1335C>T) was identified in one of 107 patients with FAP-like phenotype, with approximately 100 adenomas being noted throughout this individual's colon at age 37 (Filipe B et al. Clin. Genet. 2009 Sep;76:242-55). In addition to the clinical data presented in the literature, 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 | RCV003535797 | SCV002166429 | pathogenic | Familial adenomatous polyposis 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln445*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial adenomatous polyposis (PMID: 19793053). ClinVar contains an entry for this variant (Variation ID: 438865). For these reasons, this variant has been classified as Pathogenic. |