Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000581877 | SCV000687015 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722422 | SCV000715426 | likely benign | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV003103997 | SCV002346826 | likely benign | Familial adenomatous polyposis 1 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001353825 | SCV000591037 | uncertain significance | Familial adenomatous polyposis 1 | no assertion criteria provided | clinical testing | The c.532-14_532-12del variant has not been previously reported in the literature nor was it identified in public databases. It is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and this variant spans into the -12 position and variants involving these positions sometimes affect splicing. However, splicing prediction softwares (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing, but this information is not predictive enough to rule out pathogenicity. Functional or segregation studies may be required to determine the clinical significance of this variant. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance. |