ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.946G>C (p.Ala316Pro)

dbSNP: rs864622303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205873 SCV000260050 uncertain significance Peutz-Jeghers syndrome 2015-08-21 criteria provided, single submitter clinical testing In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. 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. This variant is not present in population databases and has not been reported in the literature. This sequence change replaces alanine with proline at codon 316 of the STK11 protein (p.Ala316Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.

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