ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs750355124
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Total submissions: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001349282 SCV001543617 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 481 of the TUBGCP6 protein (p.Ala481Thr). This variant is present in population databases (rs750355124, 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: 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, 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.
Breakthrough Genomics, Breakthrough Genomics RCV001349282 SCV005194538 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV001349282 SCV005333566 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816353 SCV005069493 uncertain significance Optic atrophy 2023-01-01 no assertion criteria provided clinical testing

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