ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs)

dbSNP: rs1554825206
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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 RCV000537386 SCV000645607 pathogenic PTEN hamartoma tumor syndrome 2017-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PTEN-related disease. This sequence change creates a premature translational stop signal (p.Phe241Hisfs*16) 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). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003451174 SCV004188895 pathogenic Cowden syndrome 1 2023-09-29 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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