ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.943C>G (p.Pro315Ala)

dbSNP: rs786202431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777362 SCV000913224 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces proline with alanine at codon 315 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with STK11-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001869121 SCV002278945 uncertain significance Peutz-Jeghers syndrome 2022-09-06 criteria provided, single submitter clinical testing 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 replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 315 of the STK11 protein (p.Pro315Ala). ClinVar contains an entry for this variant (Variation ID: 631199). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STK11 protein function.
Ambry Genetics RCV000777362 SCV004006378 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-14 criteria provided, single submitter clinical testing The p.P315A variant (also known as c.943C>G), located in coding exon 8 of the STK11 gene, results from a C to G substitution at nucleotide position 943. The proline at codon 315 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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