Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001327151 | SCV001518213 | uncertain significance | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1026671). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs752428490, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1081 of the TUBGCP6 protein (p.Gly1081Arg). |
Ambry Genetics | RCV004035231 | SCV004973549 | uncertain significance | Inborn genetic diseases | 2023-10-13 | criteria provided, single submitter | clinical testing | The c.3241G>A (p.G1081R) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 3241, causing the glycine (G) at amino acid position 1081 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |