ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer)

dbSNP: rs773896661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205520 SCV001376782 pathogenic not provided 2024-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu8*) 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 (rs773896661, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with LIFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 936674). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003145375 SCV003831387 likely pathogenic Stüve-Wiedemann syndrome 1 2021-12-22 criteria provided, single submitter clinical testing

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