ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3193G>A (p.Glu1065Lys) (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 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1065 of the TUBGCP6 protein (p.Glu1065Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs143759693, ExAC 0.07%). This variant has not been reported in the literature in individuals with TUBGCP6-related conditions. 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 Praxis fuer Humangenetik Tuebingen RCV001064674 SCV001747350 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing

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