ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1055A>T (p.Asp352Val)

dbSNP: rs2145431252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248880 SCV002519414 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003617950 SCV004456363 uncertain significance Peutz-Jeghers syndrome 2023-04-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 352 of the STK11 protein (p.Asp352Val). 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. ClinVar contains an entry for this variant (Variation ID: 1685153). 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).
Ambry Genetics RCV004948661 SCV005515544 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-11 criteria provided, single submitter clinical testing The p.D352V variant (also known as c.1055A>T), located in coding exon 8 of the STK11 gene, results from an A to T substitution at nucleotide position 1055. The aspartic acid at codon 352 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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