ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.458C>A (p.Ala153Asp) (rs1555737824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632806 SCV000754001 uncertain significance Peutz-Jeghers syndrome 2017-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 153 of the STK11 protein (p.Ala153Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with STK11-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Mendelics RCV000632806 SCV000839413 uncertain significance Peutz-Jeghers syndrome 2018-07-02 criteria provided, single submitter clinical testing

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