Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000572067 | SCV000674407 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | The p.L366S variant (also known as c.1097T>C), located in coding exon 9 of the POT1 gene, results from a T to C substitution at nucleotide position 1097. The leucine at codon 366 is replaced by serine, 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. |
| Invitae | RCV001226378 | SCV001398690 | uncertain significance | Tumor predisposition syndrome 3 | 2022-03-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 486138). This variant has not been reported in the literature in individuals affected with POT1-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 366 of the POT1 protein (p.Leu366Ser). |