Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000815292 | SCV000955741 | uncertain significance | Tumor predisposition syndrome 3 | 2022-02-09 | criteria provided, single submitter | clinical testing | 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 disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 658464). This variant has not been reported in the literature in individuals affected with POT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 553 of the POT1 protein (p.Gly553Glu). |
| Ambry Genetics | RCV002397691 | SCV002707163 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-27 | criteria provided, single submitter | clinical testing | The p.G553E variant (also known as c.1658G>A), located in coding exon 13 of the POT1 gene, results from a G to A substitution at nucleotide position 1658. The glycine at codon 553 is replaced by glutamic acid, an amino acid with similar 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. |