Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003534620 | SCV000822440 | uncertain significance | Familial adenomatous polyposis 1 | 2021-12-30 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 572593). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1043 of the APC protein (p.Pro1043Ser). |
| Gene |
RCV002280137 | SCV002568702 | uncertain significance | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18199528) |
| Ambry Genetics | RCV002532248 | SCV003636935 | uncertain significance | Inborn genetic diseases | 2022-09-07 | criteria provided, single submitter | clinical testing | The c.3127C>T (p.P1043S) alteration is located in exon 16 (coding exon 15) of the APC gene. This alteration results from a C to T substitution at nucleotide position 3127, causing the proline (P) at amino acid position 1043 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV002531484 | SCV004198769 | uncertain significance | Familial adenomatous polyposis 1 | 2023-10-15 | criteria provided, single submitter | clinical testing |