ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)

gnomAD frequency: 0.00006  dbSNP: rs368040993
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056066 SCV001220485 uncertain significance not provided 2021-12-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 467 of the ELP1 protein (p.Ala467Asp). This variant is present in population databases (rs368040993, gnomAD 0.2%). 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: 851633). 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: "Benign"; 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 RCV004031774 SCV002755984 uncertain significance not specified 2022-02-11 criteria provided, single submitter clinical testing The p.A467D variant (also known as c.1400C>A), located in coding exon 12 of the IKBKAP gene, results from a C to A substitution at nucleotide position 1400. The alanine at codon 467 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is well 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.
Fulgent Genetics, Fulgent Genetics RCV002482010 SCV002787168 uncertain significance Medulloblastoma; Familial dysautonomia 2022-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276238 SCV001462240 uncertain significance Familial dysautonomia 2020-01-24 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.