ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2489C>T (p.Thr830Met)

gnomAD frequency: 0.00014  dbSNP: rs758201280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504060 SCV000597758 uncertain significance not specified 2016-09-21 criteria provided, single submitter clinical testing
Invitae RCV001857179 SCV002272200 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 830 of the TUBGCP6 protein (p.Thr830Met). This variant is present in population databases (rs758201280, gnomAD 0.01%). 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: 437155). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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