ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1266C>G (p.Ser422Arg)

dbSNP: rs751352435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315330 SCV001505899 uncertain significance Peutz-Jeghers syndrome 2021-08-04 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with STK11-related conditions. This sequence change replaces serine with arginine at codon 422 of the STK11 protein (p.Ser422Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.

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