Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414285 | SCV000491897 | uncertain significance | not specified | 2016-11-11 | criteria provided, single submitter | clinical testing | The T367M variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T367M variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T367M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Threonine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T367M as a variant of uncertain significance. |
Invitae | RCV001351397 | SCV001545861 | uncertain significance | not provided | 2022-07-02 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 367 of the TUBGCP6 protein (p.Thr367Met). 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: 373312). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV003343803 | SCV004061040 | uncertain significance | Inborn genetic diseases | 2023-06-30 | criteria provided, single submitter | clinical testing | The c.1100C>T (p.T367M) alteration is located in exon 3 (coding exon 3) of the TUBGCP6 gene. This alteration results from a C to T substitution at nucleotide position 1100, causing the threonine (T) at amino acid position 367 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |