ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091485 SCV001247559 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV001091485 SCV001582994 pathogenic not provided 2020-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys253*) 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 individual(s) with Stuve-Wiedemann syndrome (PMID: 14740318, 24477277, 25868946). Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). For these reasons, this variant has been classified as Pathogenic.

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