ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.370_445dup (p.Gln149delinsLeuTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452550 SCV004189710 pathogenic Cowden syndrome 1 2023-09-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003509828 SCV004254003 pathogenic PTEN hamartoma tumor syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln149Leufs*2) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PTEN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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