Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003187691 | SCV003858818 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-27 | criteria provided, single submitter | clinical testing | The p.G370A variant (also known as c.1109G>C) is located in coding exon 9 of the STK11 gene. The glycine at codon 370 is replaced by alanine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 9. This amino acid position is conserved. 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 | RCV003779546 | SCV004651807 | uncertain significance | Peutz-Jeghers syndrome | 2023-06-08 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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: 2451995). This variant has not been reported in the literature in individuals affected with STK11-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 alanine, which is neutral and non-polar, at codon 370 of the STK11 protein (p.Gly370Ala). |