ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)

gnomAD frequency: 0.00098  dbSNP: rs146440397
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000659118 SCV000291943 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000659118 SCV000626022 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000659118 SCV000705489 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659118 SCV000780931 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001166178 SCV000884035 uncertain significance Familial dysautonomia 2020-04-09 criteria provided, single submitter clinical testing The p.Arg1094Gly variant (rs146440397) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.2 percent in the European Non-Finnish population (identified on 215 out of 126,458 chromosomes) and has been reported to the ClinVar database (Variation ID: 242294). The arginine at position 1094 is highly conserved up to C. elegans considering 13 species (Alamut v2.11) and computational analyses of the effects of the p.Arg1094Gly variant on protein structure and function provide conflicting results (SIFT: tolerated, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Arg1094Gly variant with certainty.
Illumina Laboratory Services, Illumina RCV001166178 SCV001328519 uncertain significance Familial dysautonomia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000659118 SCV001716030 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461020 SCV002756039 uncertain significance Inborn genetic diseases 2022-04-20 criteria provided, single submitter clinical testing The p.R1094G variant (also known as c.3280A>G), located in coding exon 29 of the IKBKAP gene, results from an A to G substitution at nucleotide position 3280. The arginine at codon 1094 is replaced by glycine, an amino acid with dissimilar 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.
Natera, Inc. RCV001166178 SCV001461187 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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