ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2434G>A (p.Ala812Thr)

dbSNP: rs2147181430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018214 SCV002305282 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, a(n) neutral and non-polar amino acid, with threonine, a(n) neutral and polar amino acid, at codon 812 of the TUBGCP6 protein (p.Ala812Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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