Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Juno Genomics, |
RCV005867156 | SCV007495825 | pathogenic | Nephronophthisis 12 | criteria provided, single submitter | clinical testing | Absent from controls (or at extremely low frequency if recessive) in Genome Aggregation Database, Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.;Null variant in a gene where loss of function (LOF) is a known mechanism of disease.;For recessive disorders, detected in trans with a pathogenic variant.;Patient's phenotype or family history is highly specific for a disease with a single genetic etiology. | |
| 3billion | RCV005867156 | SCV006585161 | pathogenic | Nephronophthisis 12 | 2024-11-27 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v4.1.0 dataset (total allele frequency: <0.001%). Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV001179137 /PMID: 23559409). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| Labcorp Genetics |
RCV003771653 | SCV004569694 | pathogenic | Jeune thoracic dystrophy; Nephronophthisis | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu90*) in the TTC21B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC21B are known to be pathogenic (PMID: 18327258, 21068128, 21258341, 23559409, 24876116, 25492405, 27491411, 29068549). This variant is present in population databases (rs748514860, gnomAD 0.08%). This premature translational stop signal has been observed in individual(s) with TTC21B-related conditions (PMID: 23559409, 25492405, 36263627). ClinVar contains an entry for this variant (Variation ID: 1179137). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV001536012 | SCV001752692 | pathogenic | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2021-06-30 | criteria provided, single submitter | clinical testing | |
| Department of Pediatrics, |
RCV003339667 | SCV004046853 | uncertain significance | Bardet-Biedl syndrome 2 | no assertion criteria provided | clinical testing |