Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535622 | SCV000282766 | uncertain significance | Familial adenomatous polyposis 1 | 2022-08-08 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 236609). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (rs749782426, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1595 of the APC protein (p.Ala1595Pro). |
Counsyl | RCV000226553 | SCV000489217 | uncertain significance | Familial adenomatous polyposis 1 | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338701 | SCV002640086 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-01 | criteria provided, single submitter | clinical testing | The p.A1595P variant (also known as c.4783G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 4783. The alanine at codon 1595 is replaced by proline, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002478828 | SCV002774418 | uncertain significance | not provided | 2021-08-21 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000226553 | SCV004019856 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-15 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Gene |
RCV002478828 | SCV004036951 | uncertain significance | not provided | 2023-09-24 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in control individuals and not in any biliary tract cancer cases in the published literature (Okawa et al., 2023); This variant is associated with the following publications: (PMID: 18199528, 36243179) |
Baylor Genetics | RCV000226553 | SCV004192138 | uncertain significance | Familial adenomatous polyposis 1 | 2023-08-31 | criteria provided, single submitter | clinical testing |