ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.829A>G (p.Thr277Ala) (rs1564568216)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693119 SCV000820975 uncertain significance PTEN hamartoma tumor syndrome 2018-01-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 277 of the PTEN protein (p.Thr277Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. 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. Experimental studies have shown that this missense change results in a PTEN protein with altered intracellular localization and reduced protein stability (PMID: 28263967). 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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