ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.35A>T (p.Asn12Ile)

dbSNP: rs1085308044
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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 RCV001214844 SCV001386549 likely pathogenic PTEN hamartoma tumor syndrome 2019-08-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 12 of the PTEN protein (p.Asn12Ile). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with clinical features of Cowden or Cowden-like syndrome (PMID: 25669429, 29706633, Invitae). This variant has been reported to affect PTEN protein function (PMID: 29706633, 29706350, 29785012). 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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