Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000614623 | SCV000712029 | likely pathogenic | Familial multiple polyposis syndrome | 2016-07-26 | criteria provided, single submitter | clinical testing | The p.Ala1907fs variant in APC has not been previously reported in individuals w ith familial adenomatous polyposis (FAP) or in large population studies. This va riant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 1907 and leads to a premature termination codon 1 2 amino acids downstream. This termination codon occurs in the last exon and may escape nonsense mediated decay resulting in a truncated protein (925 amino acid s shorter). Loss-of-function APC variants in this exon have been reported in ind ividuals with FAP. In summary, although additional studies are required to fully establish its clinical significance, the p.Ala1907Leufs variant is likely patho genic. |
| Gene |
RCV001775913 | SCV002013131 | likely pathogenic | not provided | 2022-04-20 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |