ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4876G>A (p.Gly1626Ser)

gnomAD frequency: 0.00001  dbSNP: rs201575861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349033 SCV001543360 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1626 of the TUBGCP6 protein (p.Gly1626Ser). This variant is present in population databases (rs201575861, gnomAD 0.03%). 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: 1044737). 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 disruptive. 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.
Genetic Services Laboratory, University of Chicago RCV001820047 SCV002069497 uncertain significance not specified 2018-08-14 criteria provided, single submitter clinical testing

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