ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1441G>A (p.Ala481Thr) (rs750355124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202767 SCV000258155 uncertain significance not specified 2015-06-17 criteria provided, single submitter clinical testing
Invitae RCV001349282 SCV001543617 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 481 of the TUBGCP6 protein (p.Ala481Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs750355124, ExAC 0.03%). This variant has not been reported in the literature in individuals with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 218771). 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, 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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