ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1854+3A>G

gnomAD frequency: 0.00001  dbSNP: rs773379221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369045 SCV001565473 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 662573). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This variant is present in population databases (rs773379221, gnomAD 0.0009%). This sequence change falls in intron 16 of the ELP1 gene. It does not directly change the encoded amino acid sequence of the ELP1 protein. It affects a nucleotide within the consensus splice site.
Natera, Inc. RCV000820239 SCV002082109 uncertain significance Familial dysautonomia 2020-07-30 no assertion criteria provided clinical testing

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