ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del)

dbSNP: rs587780711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123048 SCV000166343 uncertain significance PTEN hamartoma tumor syndrome 2021-07-06 criteria provided, single submitter clinical testing This variant, c.532_534del, results in the deletion of 1 amino acid(s) of the PTEN protein (p.Tyr178del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of PTEN hamartoma tumor syndrome (PMID: 30528446). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001265677 SCV001443844 likely pathogenic Inborn genetic diseases 2017-12-06 criteria provided, single submitter clinical testing

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