ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1114G>A (p.Val372Ile)

gnomAD frequency: 0.00001  dbSNP: rs2080821529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211771 SCV001383327 uncertain significance Peutz-Jeghers syndrome 2023-08-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 372 of the STK11 protein (p.Val372Ile). 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. ClinVar contains an entry for this variant (Variation ID: 941900). 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. 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.
Baylor Genetics RCV003469351 SCV004205560 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2023-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033832 SCV005035447 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-07 criteria provided, single submitter clinical testing The p.V372I variant (also known as c.1114G>A), located in coding exon 9 of the STK11 gene, results from a G to A substitution at nucleotide position 1114. The valine at codon 372 is replaced by isoleucine, 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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