Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590516 | SCV000694074 | uncertain significance | not provided | 2017-02-23 | criteria provided, single submitter | clinical testing | Variant summary: The APC c.531+9C>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice predictions tools predict no change of normal splciing, and 4/5 splice prediction tools predict the strengthening of a cryptic splice donor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 119872 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Color Diagnostics, |
RCV000776342 | SCV000911702 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-25 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002530877 | SCV001415358 | uncertain significance | Familial adenomatous polyposis 1 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein. This variant is not present in population databases (ExAC 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: 495365). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |