ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.176C>G (p.Ser59Ter) (rs1060500116)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473713 SCV000541597 pathogenic PTEN hamartoma tumor syndrome 2016-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 59 (p.Ser59*) of the PTEN gene. It is expected to result in an absent or disrupted protein product. Truncating variants in PTEN are known to be pathogenic. This particular truncation has been reported in an individual with suspected Cowden syndrome (PMID: 21194675). For these reasons, this variant has been classified as Pathogenic.

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