ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)

gnomAD frequency: 0.00006  dbSNP: rs375666523
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236785 SCV000294182 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing The R27Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R27Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000236785 SCV000957052 uncertain significance not provided 2022-03-23 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 27 of the ELP1 protein (p.Arg27Gln). This variant is present in population databases (rs375666523, gnomAD 0.008%). 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: 246586). 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"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000236785 SCV002541011 uncertain significance not provided 2021-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020941 SCV002755651 uncertain significance not specified 2024-03-12 criteria provided, single submitter clinical testing The c.80G>A (p.R27Q) alteration is located in exon 2 (coding exon 1) of the IKBKAP gene. This alteration results from a G to A substitution at nucleotide position 80, causing the arginine (R) at amino acid position 27 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002500837 SCV002812079 uncertain significance Medulloblastoma; Familial dysautonomia 2022-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000816537 SCV001463106 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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