Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000202178 | SCV000566032 | pathogenic | not provided | 2019-12-05 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 11247896, 20223039) |
Invitae | RCV003335214 | SCV001583963 | pathogenic | Familial adenomatous polyposis 1 | 2020-04-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has been observed in individual(s) with clinical features of familial adenomatous polyposis (PMID: 11247896). This variant is also known as 450delAGAA in the literature. ClinVar contains an entry for this variant (Variation ID: 217984). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu151Lysfs*18) in the APC gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002327054 | SCV002636507 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-08 | criteria provided, single submitter | clinical testing | The c.450_453delAGAA variant, located in coding exon 4 of the APC gene, results from a deletion of 4 nucleotides at nucleotide positions 450 to 453, causing a translational frameshift with a predicted alternate stop codon (p.E151Kfs*18). This alteration was identified in 2/1164 unrelated German index patients with a clinical diagnosis of FAP or AFAP (Friedl W et al. Hered Cancer Clin Pract, 2005 Sep;3:95-114). 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. |
Myriad Genetics, |
RCV003335214 | SCV004045618 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-26 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Mayo Clinic Laboratories, |
RCV000202178 | SCV000256999 | pathogenic | not provided | no assertion criteria provided | research |