ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) (rs876660879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214783 SCV000278659 likely pathogenic Hereditary cancer-predisposing syndrome 2016-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Structural Evidence,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000645070 SCV000766812 uncertain significance PTEN hamartoma tumor syndrome 2017-11-20 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the PTEN mRNA. It is expected to extend the length of the PTEN protein by 8 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 234144). A different variant in affecting this stop codon (p.*404Serext*8) has been reported in an individual with macrocephaly, enlarged periventricular spaces and pervasive developmental disorder (PMID: 24375884). This suggests that stop loss variants may impact PTEN protein function. 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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