ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter)

gnomAD frequency: 0.00001  dbSNP: rs121912501
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Total submissions: 4
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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, Baylor-Hopkins CMG, Baylor College of Medicine RCV000015546 SCV001167454 pathogenic Stuve-Wiedemann syndrome no assertion criteria provided research
Natera, Inc. RCV000015546 SCV002084262 pathogenic Stuve-Wiedemann syndrome 2020-07-08 no assertion criteria provided clinical testing

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