ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.645dup (p.Val216fs)

dbSNP: rs1589663146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808079 SCV000948166 pathogenic PTEN hamartoma tumor syndrome 2018-08-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). This variant has been observed in an individual affected with PTEN hamartoma tumour syndrome (PMID: 23335809). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val216Cysfs*27) in the PTEN gene. It is expected to result in an absent or disrupted protein product.

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