ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3193G>A (p.Glu1065Lys)

gnomAD frequency: 0.00062  dbSNP: rs143759693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503457 SCV000597755 uncertain significance not specified 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV001064674 SCV001229587 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1065 of the TUBGCP6 protein (p.Glu1065Lys). This variant is present in population databases (rs143759693, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 437152). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen RCV001064674 SCV001747350 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing

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