ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1212A>G (p.Ter404Trp) (rs876660879)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523041 SCV000617184 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing This variant is denoted PTEN c.1212A>G at the cDNA level and p.Ter404TrpextX8 (X404WextX8) atthe protein level. This substitution is located in the last amino acid of the PTEN gene and results in the natural stopcodon being changed to a Tryptophan (TGA>TGG), resulting in the extension of the protein by 8 amino acids. Whilethis variant has not, to our knowledge, been published in the literature, the adjacent variant PTEN c.1211G>A, whichalso results in extension of the protein by 8 residues (p.Ter404SerextX8), has been reported as a de novo variant in anindividual with macrocephaly and developmental delay (Vanderver 2014). Based on currently available evidence, weconsider PTEN c.1212A>G to be a likely pathogenic variant

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