ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.425G>A (p.Arg142Gln) (rs753630034)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227727 SCV000284592 uncertain significance PTEN hamartoma tumor syndrome 2018-02-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 142 of the PTEN protein (p.Arg142Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature as a germline variant in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 237646). 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 RCV000565516 SCV000666970 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000565516 SCV000912948 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-22 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000782196 SCV000920668 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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