ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter)

gnomAD frequency: 0.00003  dbSNP: rs3729732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823782 SCV000964652 pathogenic not provided 2024-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg10*) 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 (rs3729732, gnomAD 0.02%). 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: 631966). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036106 SCV005673445 uncertain significance Stüve-Wiedemann syndrome 1 2024-05-14 criteria provided, single submitter clinical testing

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