ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.613A>G (p.Met205Val) (rs776763121)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458840 SCV000541592 uncertain significance PTEN hamartoma tumor syndrome 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 205 of the PTEN protein (p.Met205Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs776763121, ExAC 0.002%). This variant has been reported in the literature in an individual affected with PTEN hamartoma tumor syndrome (PHTS) (PMID: 21194675). ClinVar contains an entry for this variant (Variation ID: 404146). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000568825 SCV000671714 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000662536 SCV000785111 uncertain significance Cowden syndrome 1 2017-04-20 criteria provided, single submitter clinical testing
Mendelics RCV000458840 SCV000838421 uncertain significance PTEN hamartoma tumor syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000568825 SCV000906733 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-02 criteria provided, single submitter clinical testing

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