Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004562108 | SCV001420182 | pathogenic | Familial adenomatous polyposis 1 | 2024-07-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu74Serfs*4) 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 variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 971101). For these reasons, this variant has been classified as Pathogenic. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800975 | SCV002046585 | pathogenic | not provided | 2021-01-15 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Found in at least one patient with expected phenotype for this gene. |
| Myriad Genetics, |
RCV004562108 | SCV004044701 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-25 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Ambry Genetics | RCV004944954 | SCV005467562 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-11-01 | criteria provided, single submitter | clinical testing | The c.219delA pathogenic mutation, located in coding exon 2 of the APC gene, results from a deletion of one nucleotide at nucleotide position 219, causing a translational frameshift with a predicted alternate stop codon (p.E74Sfs*4). This variant has been observed in at least one individual with a personal and/or family history that is consistent with familial adenomatous polyposis (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |