ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.446C>T (p.Pro149Leu)

dbSNP: rs2145422466
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874781 SCV002140603 uncertain significance Peutz-Jeghers syndrome 2021-11-09 criteria provided, single submitter clinical testing 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 expected to disrupt STK11 protein function. This missense change has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 26430231). However, in at least one individual, the variant co-occurs with another STK11 missense variant (p.Leu285Gln). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 149 of the STK11 protein (p.Pro149Leu).

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