ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.656G>A (p.Arg219Gln)

gnomAD frequency: 0.00001  dbSNP: rs749382362
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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 RCV001242638 SCV001415740 uncertain significance not provided 2022-03-29 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 219 of the ELP1 protein (p.Arg219Gln). This variant is present in population databases (rs749382362, gnomAD 0.006%). 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: 967668). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV001563850 SCV001786891 uncertain significance Familial dysautonomia 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034725 SCV002755796 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The p.R219Q variant (also known as c.656G>A), located in coding exon 7 of the IKBKAP gene, results from a G to A substitution at nucleotide position 656. The arginine at codon 219 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001563850 SCV002082160 uncertain significance Familial dysautonomia 2020-04-21 no assertion criteria provided clinical testing

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