ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3855G>A (p.Pro1285=)

gnomAD frequency: 0.00001  dbSNP: rs901285079
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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 RCV001069470 SCV001234637 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing This sequence change affects codon 1285 of the ELP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ELP1 protein. This variant also falls at the last nucleotide of exon 35 of the ELP1 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ELP1-related conditions. 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. 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. RCV001828518 SCV002082002 uncertain significance Familial dysautonomia 2020-11-28 no assertion criteria provided clinical testing

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