ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1178A>G (p.Asn393Ser) (rs1060499965)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771660 SCV000904284 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-10 criteria provided, single submitter clinical testing
Invitae RCV000551124 SCV000629072 uncertain significance Peutz-Jeghers syndrome 2017-02-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 393 of the STK11 protein (p.Asn393Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an STK11-related disease. 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. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000551124 SCV000839429 uncertain significance Peutz-Jeghers syndrome 2018-07-02 criteria provided, single submitter clinical testing

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