ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.263_264del (p.Tyr88fs)

dbSNP: rs1859964600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209547 SCV001380987 pathogenic PTEN hamartoma tumor syndrome 2019-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr88Serfs*3) in the PTEN gene. It is expected to result 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 conditions. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001332359 SCV001524661 likely pathogenic Cowden syndrome 1 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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