ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2497+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics, Suma Genomics RCV002262180 SCV002543802 pathogenic Stüve-Wiedemann syndrome 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095954 SCV002943617 likely pathogenic not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the LIFR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LIFR-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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