ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.478A>C (p.Thr160Pro) (rs1060500128)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469145 SCV000541628 uncertain significance PTEN hamartoma tumor syndrome 2017-01-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 160 of the PTEN protein (p.Thr160Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 26932208). This variant is also known as 225A>C in the literature. 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505947 SCV000602122 uncertain significance not specified 2016-11-14 criteria provided, single submitter clinical testing

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