ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala)

gnomAD frequency: 0.00009  dbSNP: rs985345843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038195 SCV001201656 uncertain significance not provided 2022-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 447 of the TUBGCP6 protein (p.Val447Ala). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 836961). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The alanine 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.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002276593 SCV002564632 uncertain significance Microcephaly and chorioretinopathy 1 2022-01-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 5 of the TUBGCP6 gene (chr22:g.50227979A>G; Depth: 303x) that results in the amino acid substitution of Alanine for Valine at codon 447 (p.Val447Ala; ENST00000248846.10) was detected. The p.Val447Ala variant has not been reported in the 1000 genomes database and has a minor allele frequency of 0.009% in the gnomAD database. The in silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT. The reference codon is conserved across species.
Daryl Scott Lab, Baylor College of Medicine RCV002276593 SCV004102653 uncertain significance Microcephaly and chorioretinopathy 1 2023-11-10 criteria provided, single submitter clinical testing

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