ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.331T>G (p.Trp111Gly)

dbSNP: rs398123321
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205575 SCV001376837 uncertain significance PTEN hamartoma tumor syndrome 2019-06-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PTEN-related conditions. This sequence change replaces tryptophan with glycine at codon 111 of the PTEN protein (p.Trp111Gly). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to affect PTEN protein function (PMID: 29706350). 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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