ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.277C>T (p.His93Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801387 SCV000941161 likely pathogenic PTEN hamartoma tumor syndrome 2018-09-22 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 93 of the PTEN protein (p.His93Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with clinical features of PTEN hamartoma tumor syndrome (PMID: 9685848, 24778394, Invitae). Experimental studies have shown that this missense change results in loss of phosphatase activity of PTEN (PMID: 21828076, 10866302). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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