Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001802510 | SCV002048732 | likely pathogenic | Asphyxiating thoracic dystrophy 2 | 2021-09-03 | criteria provided, single submitter | clinical testing | The IFT80 c.411dup; p.Met138Aspfs*3 variant (rs778324141), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.002% (5/250,368 alleles) in the Genome Aggregation Database. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic. |
| Labcorp Genetics |
RCV002541368 | SCV003520286 | pathogenic | Jeune thoracic dystrophy | 2023-03-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1330851). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IFT80-related conditions. This sequence change creates a premature translational stop signal (p.Met138Aspfs*3) in the IFT80 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT80 are known to be pathogenic (PMID: 21227999, 23339108, 29068549). This variant is present in population databases (rs778324141, gnomAD 0.01%). |
| Fulgent Genetics, |
RCV001802510 | SCV005657929 | likely pathogenic | Asphyxiating thoracic dystrophy 2 | 2024-06-21 | criteria provided, single submitter | clinical testing |