ClinVar Miner

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

dbSNP: rs773132143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533574 SCV000828563 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing 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. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 577154). This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. This variant is not present in population databases (gnomAD no frequency). 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. It affects a nucleotide within the consensus splice site.
Natera, Inc. RCV000699834 SCV001452821 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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