Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001360209 | SCV001556114 | uncertain significance | Peutz-Jeghers syndrome | 2021-12-06 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with Peutz-Jeghers syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.907_915dup, results in the insertion of 3 amino acid(s) of the STK11 protein (p.Ile303_Gln305dup), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV004671367 | SCV005165197 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-22 | criteria provided, single submitter | clinical testing | The c.907_915dupATCCGGCAG variant (also known as p.I303_Q305dup), located in coding exon 7 of the STK11 gene, results from an in-frame duplication of ATCCGGCAG at nucleotide positions 907 to 915. This results in the duplication of three extra residues (IRQ) between codons 303 and 305. This variant has been observed in at least one individual with a personal and/or family history that is consistent with Peutz-Jeghers syndrome (PJS) (Ambry internal data). This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |