Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000779707 | SCV000916462 | likely pathogenic | Familial multiple polyposis syndrome | 2017-12-11 | criteria provided, single submitter | clinical testing | Variant summary: The c.677delA (p.Lys226Argfs*67) variant in APC gene is a frameshift change, which is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population datasets of ExAC and gnomAD (120204 and 245862 chrs tested, respectively). The c.677delA has been reported in at least one FAP patient (Friedl_2005) and is cited as Likely Pathogenic by a reputable database/clinical laboratory. Other truncated variants, such as c. c.778C>T (p.Gln260X) and c.797dup (p.Glu268ArgfsX9), have been reported in association with FAP. Taking together, the variant was classified as Likely Pathogenic. |
| Ambry Genetics | RCV002363021 | SCV002666231 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-18 | criteria provided, single submitter | clinical testing | The c.677delA pathogenic mutation, located in coding exon 6 of the APC gene, results from a deletion of one nucleotide at position 677, causing a translational frameshift with a predicted alternate stop codon (p.K226Rfs*67). This alteration was identified in 1/1164 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, |
RCV003337251 | SCV004042852 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-27 | 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, |
RCV000202065 | SCV000257027 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |