ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.755A>T (p.Asp252Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698131 SCV000826774 uncertain significance PTEN hamartoma tumor syndrome 2018-03-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 252 of the PTEN protein (p.Asp252Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with autism spectrum disorder or suspected Cowden syndrome (PMID: 25288137, 25669429). 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 C15"). 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.

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