ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.685T>A (p.Ser229Thr) (rs587781998)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130411 SCV000185273 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179748 SCV000232047 uncertain significance not provided 2015-04-17 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000660236 SCV000782242 uncertain significance Cowden syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000696843 SCV000825422 uncertain significance PTEN hamartoma tumor syndrome 2018-06-18 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 229 of the PTEN protein (p.Ser229Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. 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: 141771). 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. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000179748 SCV000889805 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing

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