ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.533A>G (p.Tyr178Cys) (rs786204866)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457017 SCV000541612 uncertain significance PTEN hamartoma tumor syndrome 2016-04-14 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 178 of the PTEN protein (p.Tyr178Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in the germline of individuals with a PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 189413). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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