Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000574820 | SCV000676293 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-08-04 | criteria provided, single submitter | clinical testing | The p.Y36* pathogenic mutation (also known as c.108C>G), located in coding exon 1 of the STK11 gene, results from a C to G substitution at nucleotide position 108. This changes the amino acid from a tyrosine to a stop codon within coding exon 1. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Invitae | RCV003507297 | SCV004315994 | pathogenic | Peutz-Jeghers syndrome | 2023-08-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 486996). 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 creates a premature translational stop signal (p.Tyr36*) in the STK11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). |