ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.887G>A (p.Cys296Tyr) (rs1060500121)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464473 SCV000541619 uncertain significance PTEN hamartoma tumor syndrome 2018-08-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 296 of the PTEN protein (p.Cys296Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. 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: 404163). 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.
Ambry Genetics RCV000561893 SCV000671704 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760052 SCV000889807 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing

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