Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001046613 | SCV001210522 | uncertain significance | not provided | 2021-07-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs768027726, ExAC 0.003%). This sequence change replaces alanine with aspartic acid at codon 651 of the TUBGCP6 protein (p.Ala651Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. |