ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) (rs121912501)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386455 SCV001586685 pathogenic not provided 2020-06-20 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. This variant is present in population databases (rs121912501, ExAC 0.009%). This variant has been observed in individual(s) with Stuve-Wiedemann syndrome (PMID: 14740318). ClinVar contains an entry for this variant (Variation ID: 14460). Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015546 SCV000035811 pathogenic Stüve-Wiedemann syndrome 2004-02-01 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000015546 SCV001167454 pathogenic Stüve-Wiedemann syndrome no assertion criteria provided research

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