ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1198A>G (p.Ile400Val) (rs863224665)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199667 SCV000254525 uncertain significance PTEN hamartoma tumor syndrome 2015-01-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 400 of the PTEN protein (p.Ile400Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant has not been published in the literature and is not present in population databases. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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