ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.364A>G (p.Ile122Val) (rs786202740)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000541717 SCV000930142 uncertain significance PTEN hamartoma tumor syndrome 2018-07-25 reviewed by expert panel curation PTEN c.364A>G (p.Ile122Val) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). PM2: Absent in large sequenced populations (PMID 27535533). PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease. BS3: Missense variants with both lipid phosphatase activity AND results from a second assay appropriate to the protein domain demonstrating no statistically significant difference from wild type. (PMID 21828076, 29706350, 29785012)
Ambry Genetics RCV000165704 SCV000216445 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178759 SCV000230910 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
Invitae RCV000541717 SCV000645573 uncertain significance PTEN hamartoma tumor syndrome 2019-01-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 122 of the PTEN protein (p.Ile122Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 186161). This variant has been reported not to substantially affect PTEN protein function (PMID: 21828076). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Color RCV000165704 SCV000691163 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing

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