ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.172G>A (p.Asp58Asn) (rs1554897255)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540254 SCV000645553 uncertain significance PTEN hamartoma tumor syndrome 2017-07-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 58 of the PTEN protein (p.Asp58Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a PTEN-related disease. 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, this variant has uncertain impact on PTEN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000580430 SCV000686279 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-26 criteria provided, single submitter clinical testing

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