Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sema4, |
RCV002258543 | SCV002531639 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-11 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002258543 | SCV005950301 | uncertain significance | Hereditary cancer-predisposing syndrome | 2025-03-03 | criteria provided, single submitter | clinical testing | The p.G370V variant (also known as c.1109G>T) is located in coding exon 9 of the STK11 gene. The glycine at codon 370 is replaced by valine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 9. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |