Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001950431 | SCV002219977 | uncertain significance | Jeune thoracic dystrophy; Nephronophthisis | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1159 of the TTC21B protein (p.Ala1159Val). This variant is present in population databases (rs367564721, gnomAD 0.009%). 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: 1440546). 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"). 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, |
RCV002492040 | SCV002788205 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-05-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002563388 | SCV003540153 | uncertain significance | Inborn genetic diseases | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.3476C>T (p.A1159V) alteration is located in exon 26 (coding exon 26) of the TTC21B gene. This alteration results from a C to T substitution at nucleotide position 3476, causing the alanine (A) at amino acid position 1159 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |