ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)

gnomAD frequency: 0.00001  dbSNP: rs765622323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383890 SCV001583212 pathogenic not provided 2023-03-02 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with clinical features of Stuve-Wiedemann syndrome (PMID: 20447141, 30614825). This sequence change creates a premature translational stop signal (p.Arg418*) 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 (rs765622323, gnomAD 0.006%). ClinVar contains an entry for this variant (Variation ID: 1071419). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001831386 SCV002084267 pathogenic Stuve-Wiedemann syndrome 2020-05-08 no assertion criteria provided clinical testing

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