Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003534745 | SCV000836563 | uncertain significance | Familial adenomatous polyposis 1 | 2022-01-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 24 of the APC protein (p.Arg24Leu). This variant has not been reported in the literature in individuals affected with APC-related conditions. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 583191). |
Ambry Genetics | RCV001026152 | SCV001188475 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-12 | criteria provided, single submitter | clinical testing | The p.R24L variant (also known as c.71G>T), located in coding exon 1 of the APC gene, results from a G to T substitution at nucleotide position 71. The arginine at codon 24 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |