Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194206 | SCV001363556 | likely benign | not specified | 2019-06-17 | criteria provided, single submitter | clinical testing | Variant summary: APC c.6510A>G alters a non-conserved nucleotide resulting in a synonymous change (p.P2170P). 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 249308 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. p.P2170P has been reported in the literature in an individual affected with Familial Adenomatous Polyposis (de Leon_2013). This report does not provide an unequivocal conclusion about association of the variant with Familial Adenomatous Polyposis. Another variant at the same nucleotide position which causes a different nucleotide change (c.6510A>C) but results in the same effect at the amino acid level (i.e. p.P2170P), has been classified as Benign by our laboratory. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign. |
| Invitae | RCV003770184 | SCV002435596 | likely benign | Familial adenomatous polyposis 1 | 2021-10-01 | criteria provided, single submitter | clinical testing |