ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.653dup (p.Glu219fs) (rs886042160)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790750 SCV000332228 pathogenic not provided 2015-06-19 criteria provided, single submitter clinical testing
Invitae RCV000790750 SCV001374288 pathogenic not provided 2019-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu219Glyfs*3) in the LIFR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Stuve-Wiedemann syndrome (PMID: 14740318). ClinVar contains an entry for this variant (Variation ID: 281444). Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000348821 SCV000035810 pathogenic Stüve-Wiedemann syndrome 2004-02-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761445 SCV000891529 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2017-12-30 no assertion criteria provided curation

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