Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506562 | SCV000600054 | pathogenic | not provided | 2016-09-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003743764 | SCV004404087 | pathogenic | Familial adenomatous polyposis 1 | 2022-10-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the APC protein in which other variant(s) (p.Tyr2645Lysfs*14) have been determined to be pathogenic (PMID: 1316610, 8381579, 9824584, 22135120, 27081525). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with clinical features of APC-related conditions (PMID: 23159591). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Lys670*) in the APC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2174 amino acid(s) of the APC protein. |