ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer)

dbSNP: rs1860617439
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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 RCV001053307 SCV001217565 pathogenic PTEN hamartoma tumor syndrome 2019-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val275*) 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.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796358 SCV005417219 likely pathogenic Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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