ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)

gnomAD frequency: 0.00015  dbSNP: rs137853022
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241330 SCV001414343 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 696 of the ELP1 protein (p.Arg696Gln). This variant is present in population databases (rs137853022, gnomAD 0.07%), including at least one homozygous and/or hemizygous individual. 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: 966606). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg696 amino acid residue in ELP1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11179008). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
CeGaT Center for Human Genetics Tuebingen RCV001241330 SCV002545707 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034676 SCV002754622 uncertain significance not specified 2020-03-24 criteria provided, single submitter clinical testing The p.R696Q variant (also known as c.2087G>A), located in coding exon 18 of the IKBKAP gene, results from a G to A substitution at nucleotide position 2087. The arginine at codon 696 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002491803 SCV002793545 uncertain significance Medulloblastoma; Familial dysautonomia 2022-02-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835098 SCV002082095 uncertain significance Familial dysautonomia 2020-05-13 no assertion criteria provided clinical testing

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