ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) (rs199775294)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000169665 SCV000221195 likely pathogenic Stüve-Wiedemann syndrome 2014-03-19 criteria provided, single submitter clinical testing The Arg692X variant in LIFR gene has not been reported in the literature but has been identified in 1/1319 European chromosomes by the ClinSeq project. This nonsense variant leads to a premature termination codon at position 692, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the LIFR gene is strongly associated with Stuve-Wiedemann syndrome (SWS). In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.
Invitae RCV001051726 SCV001215896 pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg692*) in the LIFR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs199775294, ExAC 0.006%). This variant has been observed in several individuals affected with Stuve-Wiedemann syndrome, and to segregate with disease in families (PMID: 24988918). ClinVar contains an entry for this variant (Variation ID: 189235). Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000169665 SCV000222920 pathogenic Stüve-Wiedemann syndrome 2014-09-01 no assertion criteria provided literature only

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