ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3285+2T>C (rs1554692181)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630692 SCV000751657 likely pathogenic Familial dysautonomia 2017-11-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 30 of the IKBKAP gene. It is expected to disrupt RNA splicing and likely results 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 IKBKAP-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IKBKAP are known to be pathogenic (PMID: 11179021). 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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