Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001227627 | SCV001399992 | uncertain significance | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 955056). 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 tolerated. This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs199869874, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1252 of the TUBGCP6 protein (p.Leu1252Ser). |
| Ambry Genetics | RCV002563688 | SCV003755409 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.3755T>C (p.L1252S) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a T to C substitution at nucleotide position 3755, causing the leucine (L) at amino acid position 1252 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |