ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1190-5T>A

gnomAD frequency: 0.00001  dbSNP: rs1348750667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217856 SCV001389713 uncertain significance not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the ELP1 gene. It does not directly change the encoded amino acid sequence of the ELP1 protein. 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 ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 946899). 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 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. RCV001278724 SCV001465756 uncertain significance Familial dysautonomia 2020-06-15 no assertion criteria provided clinical testing

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