ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.511dup (p.Gln171fs)

dbSNP: rs2132269032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975017 SCV002243671 pathogenic PTEN hamartoma tumor syndrome 2021-04-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln171Profs*9) in the PTEN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PTEN-related conditions. This variant is not present in population databases (ExAC no frequency).

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