Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204118 | SCV001375309 | uncertain significance | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 935509). This variant is present in population databases (rs138207892, gnomAD 0.07%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1583 of the TUBGCP6 protein (p.Ala1583Thr). |
Ambry Genetics | RCV002561145 | SCV003752836 | uncertain significance | Inborn genetic diseases | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.4747G>A (p.A1583T) alteration is located in exon 21 (coding exon 21) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 4747, causing the alanine (A) at amino acid position 1583 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |