Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003337327 | SCV000768121 | pathogenic | Familial adenomatous polyposis 1 | 2023-03-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 537469). This premature translational stop signal has been observed in individual(s) with adenomatous polyposis and colorectal cancer (PMID: 17411426, 17489848). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val368Ilefs*9) 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). |
Ambry Genetics | RCV001017313 | SCV001178380 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-13 | criteria provided, single submitter | clinical testing | The c.1102_1103delGT pathogenic mutation, located in coding exon 9 of the APC gene, results from a deletion of two nucleotides at nucleotide positions 1102 to 1103, causing a translational frameshift with a predicted alternate stop codon (p.V368Ifs*9). This mutation has previously been reported in multiple individuals with attenuated familial adenomatous polyposis (AFAP) (Stekrova J et al. BMC Med Genet. 2007 8:16; Nielsen et al. Clin Genet. 2007 71:427–433). In addition to the 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. |
Myriad Genetics, |
RCV003337327 | SCV004045588 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |