Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001885420 | SCV002200134 | uncertain significance | Jeune thoracic dystrophy; Nephronophthisis | 2021-09-03 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with nephronopthisis (PMID: 30655312). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs746459698, ExAC 0.006%). This sequence change replaces glutamic acid with valine at codon 329 of the TTC21B protein (p.Glu329Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. |
| Fulgent Genetics, |
RCV002489902 | SCV002783811 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-01-18 | criteria provided, single submitter | clinical testing | |
| Yale Center for Mendelian Genomics, |
RCV001849652 | SCV002106582 | likely pathogenic | Nephronophthisis | 2019-01-17 | no assertion criteria provided | literature only |