Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000024364 | SCV001383778 | pathogenic | Saldino-Mainzer syndrome | 2019-09-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). This variant has been observed to segregate with Mainzer-Saldino in a family (PMID: 22503633). This variant is present in population databases (rs775537867, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Ala1306Glyfs*56) in the IFT140 gene. It is expected to result in an absent or disrupted protein product. |
OMIM | RCV000024364 | SCV000045657 | pathogenic | Saldino-Mainzer syndrome | 2012-05-04 | no assertion criteria provided | literature only | |
Dan Cohn Lab, |
RCV000515983 | SCV000612041 | pathogenic | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515983 | SCV001479394 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |