ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3931+1G>A

dbSNP: rs143674809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340982 SCV001534818 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with IKBKAP-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in the last intron (intron 36) of the IKBKAP gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. 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.
Natera, Inc. RCV000630696 SCV001452810 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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