Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246196 | SCV001419536 | pathogenic | Saldino-Mainzer syndrome | 2023-07-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp982Glyfs*22) in the IFT140 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 1179046). For these reasons, this variant has been classified as Pathogenic. |