ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3046G>A (p.Glu1016Lys)

gnomAD frequency: 0.00002  dbSNP: rs868601119
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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 RCV001373066 SCV001569766 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1016 of the ELP1 protein (p.Glu1016Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1063246). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004037551 SCV002756236 uncertain significance not specified 2022-03-20 criteria provided, single submitter clinical testing The p.E1016K variant (also known as c.3046G>A), located in coding exon 27 of the IKBKAP gene, results from a G to A substitution at nucleotide position 3046. The glutamic acid at codon 1016 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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.
Natera, Inc. RCV001831322 SCV002082046 uncertain significance Familial dysautonomia 2020-05-06 no assertion criteria provided clinical testing

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