ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.610C>T (p.Pro204Ser) (rs786204868)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556951 SCV000645606 uncertain significance PTEN hamartoma tumor syndrome 2017-05-30 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 204 of the PTEN protein (p.Pro204Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a PTEN-related disease. Experimental studies have shown that this missense change disrupts PTEN protein structure and leads to a loss of phosphatase activity and inability to suppress tumor growth (PMID: 11156408). In summary, this variant has uncertain impact on PTEN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000569618 SCV000671708 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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