ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.538T>C (p.Tyr180His) (rs746280047)

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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 RCV000574800 SCV000665300 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760050 SCV000889804 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
Invitae RCV000808114 SCV000948206 uncertain significance PTEN hamartoma tumor syndrome 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 180 of the PTEN protein (p.Tyr180His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs746280047, ExAC 0.009%). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 481129). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.

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