ClinVar Miner

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

dbSNP: rs773132143
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533570 SCV000828459 uncertain significance not provided 2022-08-07 criteria provided, single submitter clinical testing This sequence change falls in intron 33 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 (rs773132143, gnomAD 0.005%). 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: 577074). 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.
Ambry Genetics RCV004026482 SCV002755119 uncertain significance not specified 2019-10-29 criteria provided, single submitter clinical testing The c.3572+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 32 in the IKBKAP gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV002533570 SCV004158537 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing ELP1: PM2, PP3
Natera, Inc. RCV000699735 SCV001452820 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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