Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386455 | SCV001586685 | pathogenic | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg597*) in the LIFR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). This variant is present in population databases (rs121912501, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with Stuve-Wiedemann syndrome (PMID: 14740318). ClinVar contains an entry for this variant (Variation ID: 14460). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000015546 | SCV000035811 | pathogenic | Stuve-Wiedemann syndrome | 2022-02-16 | no assertion criteria provided | literature only | |
Lupski Lab, |
RCV000015546 | SCV001167454 | pathogenic | Stuve-Wiedemann syndrome | no assertion criteria provided | research | ||
Natera, |
RCV000015546 | SCV002084262 | pathogenic | Stuve-Wiedemann syndrome | 2020-07-08 | no assertion criteria provided | clinical testing |