ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.593T>A (p.Met198Lys)

dbSNP: rs1554900635
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560011 SCV000645603 likely pathogenic PTEN hamartoma tumor syndrome 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 198 of the PTEN protein (p.Met198Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with PTEN Hamartoma tumor syndrome (PHTS) (PMID: 22266152; internal data). ClinVar contains an entry for this variant (Variation ID: 468702). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is expected to disrupt PTEN function with a positive predictive value of 95%. 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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