ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)

gnomAD frequency: 0.00006  dbSNP: rs776167946
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727251 SCV000291958 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000727251 SCV000706977 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727251 SCV000885611 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing The p.Gly382Arg variant (rs776167946) has not been reported in the medical literature, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.006 percent (identified on 16 out of 277,212 chromosomes), and has been reported to ClinVar (Variation ID: 242309).The glycine at position 382 is moderately conserved considering thirteen species (Alamut v2.9.0) and computational analyses of the effects of the p.Gly382Arg variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Gly382Arg variant with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV000727251 SCV001236542 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 382 of the ELP1 protein (p.Gly382Arg). This variant is present in population databases (rs776167946, 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: 242309). 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: "Tolerated"; 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.
Ambry Genetics RCV004020904 SCV002754822 uncertain significance not specified 2024-03-01 criteria provided, single submitter clinical testing The c.1144G>A (p.G382R) alteration is located in exon 11 (coding exon 10) of the IKBKAP gene. This alteration results from a G to A substitution at nucleotide position 1144, causing the glycine (G) at amino acid position 382 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274631 SCV001458960 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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