ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1066A>G (p.Asn356Asp) (rs587782345)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131284 SCV000186253 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Conflicting evidence
Invitae RCV000463640 SCV000541613 uncertain significance PTEN hamartoma tumor syndrome 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 356 of the PTEN protein (p.Asn356Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs587782345, ExAC <0.01%). This variant has been reported in an individual affected with PTEN hamartoma tumor syndrome (PHTS) (PMID: 21194675). ClinVar contains an entry for this variant (Variation ID: 142263). 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.
Color RCV000131284 SCV000691140 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-02 criteria provided, single submitter clinical testing

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