Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026060 | SCV001188369 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-21 | criteria provided, single submitter | clinical testing | The p.D237E variant (also known as c.711C>A), located in coding exon 5 of the STK11 gene, results from a C to A substitution at nucleotide position 711. The aspartic acid at codon 237 is replaced by glutamic acid, an amino acid with highly similar properties. This alteration is detected in an individual with clinical features of Peutz-Jeghers syndrome. Another alteration at this amino acid position, p.D237H, was reported in a patient with Peutz-Jeghers Syndrome and based on internal structural assessment, this alteration results in structural disruption in a sensitive region of the STK11 protein (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.. |