ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)

gnomAD frequency: 0.00001  dbSNP: rs777790000
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686633 SCV000814159 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 286 of the ELP1 protein (p.Glu286Gln). This variant is present in population databases (rs777790000, 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: 566741). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004026240 SCV002755124 uncertain significance not specified 2020-11-30 criteria provided, single submitter clinical testing The p.E286Q variant (also known as c.856G>C), located in coding exon 8 of the IKBKAP gene, results from a G to C substitution at nucleotide position 856. The glutamic acid at codon 286 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477530 SCV002776417 uncertain significance Medulloblastoma; Familial dysautonomia 2021-10-15 criteria provided, single submitter clinical testing
GeneDx RCV000686633 SCV002817862 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001274635 SCV001458969 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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