Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001883507 | SCV002145636 | uncertain significance | Jeune thoracic dystrophy; Nephronophthisis | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change affects codon 938 of the TTC21B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TTC21B protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1378915). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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, |
RCV005023354 | SCV005651234 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2024-01-15 | criteria provided, single submitter | clinical testing |