ClinVar Miner

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

dbSNP: rs2145431252
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Total submissions: 2
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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
Invitae 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). This variant is not present in population databases (gnomAD no frequency). 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.

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