ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1550G>A (p.Trp517Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058701 SCV001223291 pathogenic not provided 2019-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp517*) 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 not been reported in the literature in individuals with LIFR-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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