ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) (rs869312775)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210160 SCV000266122 likely pathogenic Cowden syndrome 2015-11-20 criteria provided, single submitter clinical testing
Mendelics RCV000988418 SCV001138131 likely pathogenic PTEN hamartoma tumor syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000988418 SCV001400037 uncertain significance PTEN hamartoma tumor syndrome 2019-08-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 115 of the PTEN protein (p.Asp115Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colon cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 224542). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C3). 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.

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