ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.488A>G (p.Lys163Arg) (rs786202753)

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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 RCV000165725 SCV000216466 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000533795 SCV000645587 uncertain significance PTEN hamartoma tumor syndrome 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 163 of the PTEN protein (p.Lys163Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. 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: 186180). An experimental study has shown that the lysine residue at codon 163 is acetylated, and that disrupting this acetylation by replacing lysine with arginine alters PTEN localization in cell culture (PMID: 26279303). However, the clinical significance of these findings is unknown. 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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