Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001952270 | SCV002193956 | uncertain significance | Jeune thoracic dystrophy; Nephronophthisis | 2022-07-19 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1418750). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 1223 of the TTC21B protein (p.Cys1223Phe). 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. |
| Fulgent Genetics, |
RCV002507044 | SCV002816476 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-04-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004043632 | SCV004972693 | uncertain significance | Inborn genetic diseases | 2023-11-17 | criteria provided, single submitter | clinical testing | The c.3668G>T (p.C1223F) alteration is located in exon 26 (coding exon 26) of the TTC21B gene. This alteration results from a G to T substitution at nucleotide position 3668, causing the cysteine (C) at amino acid position 1223 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |