ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.165-17_165del (rs1554897240)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527800 SCV000645552 likely pathogenic PTEN hamartoma tumor syndrome 2017-10-16 criteria provided, single submitter clinical testing This variant, c.165-17_165del, is a deletion that affects the acceptor splice site in intron 2 of the PTEN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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