Submissions for variant NM_000314.7(PTEN):c.98T>C (p.Ile33Thr) (rs1554893771)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000645042	SCV000766781	uncertain significance	PTEN hamartoma tumor syndrome	2019-04-09	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with threonine at codon 33 of the PTEN protein (p.Ile33Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics	RCV001019879	SCV001181291	uncertain significance	Hereditary cancer-predisposing syndrome	2019-11-06	criteria provided, single submitter	clinical testing	Insufficient evidence

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