Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000214118 | SCV000274096 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-03-13 | criteria provided, single submitter | clinical testing | The p.Q1680* pathogenic mutation (also known as c.5038C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 5038. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This variant has been observed in at least one individual with a personal and/or family history that is consistent with APC-associated polyposis conditions (Ambry internal data). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507363 | SCV000600109 | pathogenic | not provided | 2016-08-02 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001260374 | SCV001437331 | likely pathogenic | Familial multiple polyposis syndrome | 2020-09-14 | criteria provided, single submitter | clinical testing | Variant summary: APC c.5038C>T (p.Gln1680X) results in a premature termination codon, predicted to cause a truncation of the encoded protein. The variant was absent in 250054 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5038C>T in individuals affected with Familial Adenomatous Polyposis has been reported. One publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Otsuka_2003). Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Myriad Genetics, |
RCV003337254 | SCV004044803 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003337254 | SCV005053908 | likely pathogenic | Familial adenomatous polyposis 1 | 2024-02-06 | criteria provided, single submitter | clinical testing |