Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000163168 | SCV000213686 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-11-03 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes) |
| Color | RCV000163168 | SCV000687075 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-26 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000697392 | SCV000826000 | uncertain significance | Familial adenomatous polyposis 1 | 2018-08-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with serine at codon 2120 of the APC protein (p.Ala2120Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 184052). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |