ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3222+4A>T

gnomAD frequency: 0.00002  dbSNP: rs367771963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238921 SCV001411756 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing This sequence change falls in intron 29 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. This variant is present in population databases (rs367771963, gnomAD 0.002%). 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: 964658). 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.
Ambry Genetics RCV004034591 SCV002755787 uncertain significance not specified 2021-10-18 criteria provided, single submitter clinical testing The c.3222+4A>T intronic variant results from an A to T substitution 4 nucleotides after coding exon 28 in the IKBKAP gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828907 SCV002082036 uncertain significance Familial dysautonomia 2020-05-11 no assertion criteria provided clinical testing

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