ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3700+6T>G

gnomAD frequency: 0.00001  dbSNP: rs761423880
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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 RCV000819665 SCV000960338 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 34 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 of the intron. This variant is present in population databases (rs761423880, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. 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 is not likely to affect RNA splicing. 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. RCV001271562 SCV001452817 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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