ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3572+5G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699735 SCV000828459 uncertain significance Familial dysautonomia 2018-04-19 criteria provided, single submitter clinical testing This sequence change falls in intron 33 of the IKBKAP gene. It does not directly change the encoded amino acid sequence of the IKBKAP protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs773132143, ExAC 0.002%). This variant has not been reported in the literature in individuals with IKBKAP-related disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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