ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3538C>T (p.Pro1180Ser) (rs775925434)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490172 SCV000576528 likely benign not specified 2017-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001042060 SCV001205720 uncertain significance not provided 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1180 of the TUBGCP6 protein (p.Pro1180Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs775925434, ExAC 0.04%). This variant has not been reported in the literature in individuals with TUBGCP6-related disease. ClinVar contains an entry for this variant (Variation ID: 426154). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Not Available; PolyPhen-2: Benign; Align-GVGD: Class C0. The serine 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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