Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002051444 | SCV002111355 | uncertain significance | Jeune thoracic dystrophy; Nephronophthisis | 2021-06-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with proline at codon 173 of the TTC21B protein (p.Gln173Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs775266613, ExAC 0.002%). This variant has not been reported in the literature in individuals with TTC21B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV002545421 | SCV003655511 | uncertain significance | Inborn genetic diseases | 2022-10-26 | criteria provided, single submitter | clinical testing | The c.518A>C (p.Q173P) alteration is located in exon 5 (coding exon 5) of the TTC21B gene. This alteration results from a A to C substitution at nucleotide position 518, causing the glutamine (Q) at amino acid position 173 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV005014702 | SCV005653373 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2024-04-30 | criteria provided, single submitter | clinical testing |