Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001957753 | SCV002211074 | uncertain significance | Jeune thoracic dystrophy; Nephronophthisis | 2021-08-05 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 288 of the TTC21B protein (p.Phe288Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. |
| Fulgent Genetics, |
RCV002479515 | SCV002793373 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2021-12-15 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004970596 | SCV005523495 | uncertain significance | Inborn genetic diseases | 2024-11-19 | criteria provided, single submitter | clinical testing | The c.864C>A (p.F288L) alteration is located in exon 8 (coding exon 8) of the TTC21B gene. This alteration results from a C to A substitution at nucleotide position 864, causing the phenylalanine (F) at amino acid position 288 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |