Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001214999 | SCV001386715 | uncertain significance | Peutz-Jeghers syndrome | 2023-02-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 944573). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant, c.1040_1045del, results in the deletion of 2 amino acid(s) of the STK11 protein (p.Ala347_Asp348del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STK11-related conditions. |
| Ambry Genetics | RCV002393500 | SCV002698774 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.1040_1045delCGGACG variant (also known as p.A347_D348del) is located in coding exon 8 of the STK11 gene. This variant results from an in-frame CGGACG deletion at nucleotide positions 1040 to 1045. This results in the in-frame deletion of an alanine and an aspartic acid at codon positions 347 and 348, respectively. The deleted amino acid positions are poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral 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. |