ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.415TTA[1] (p.Leu140del)

dbSNP: rs1859979147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234497 SCV001407147 uncertain significance PTEN hamartoma tumor syndrome 2019-07-31 criteria provided, single submitter clinical testing This variant, c.418_420del, results in the deletion of 1 amino acid(s) of the PTEN protein (p.Leu140del), 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 an individual with clinical features of PTEN-related conditions (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) 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.

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