ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)

gnomAD frequency: 0.00002  dbSNP: rs370041985
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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 RCV000692828 SCV000820671 uncertain significance not provided 2022-03-10 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 8 of the ELP1 protein (p.Arg8Gln). This variant is present in population databases (rs370041985, gnomAD 0.01%). 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: 571632). 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004025134 SCV002755447 uncertain significance not specified 2019-11-04 criteria provided, single submitter clinical testing The p.R8Q variant (also known as c.23G>A), located in coding exon 1 of the IKBKAP gene, results from a G to A substitution at nucleotide position 23. The arginine at codon 8 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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 RCV002485658 SCV002785456 uncertain significance Medulloblastoma; Familial dysautonomia 2021-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276646 SCV001463108 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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