ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3098G>A (p.Gly1033Asp)

gnomAD frequency: 0.00001  dbSNP: rs185642293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213924 SCV001385581 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1033 of the TUBGCP6 protein (p.Gly1033Asp). This variant is present in population databases (rs185642293, gnomAD 0.007%). 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: 943680). 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: "Not Available". The aspartic acid 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.
Baylor Genetics RCV001329147 SCV001520487 uncertain significance Microcephaly and chorioretinopathy 1 2019-11-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813897 SCV005073027 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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