ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.890G>A (p.Arg297Lys)

dbSNP: rs1568710381
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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 RCV000774875 SCV000908894 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-11 criteria provided, single submitter clinical testing
Invitae RCV000809778 SCV000949953 pathogenic Peutz-Jeghers syndrome 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg297 amino acid residue in STK11. Other variant(s) that disrupt this residue have been observed in individuals with STK11-related conditions (PMID: 10874301, 24652667), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 630009). This variant is also known as c.4016G>A. This missense change has been observed in individuals with Peutz–Jeghers syndrome (PMID: 10408777, 16287113, 22543132, 24652667, 26607058, 28185117). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 297 of the STK11 protein (p.Arg297Lys).
Genome-Nilou Lab RCV000809778 SCV002057295 pathogenic Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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