ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1141G>A (p.Val381Met)

gnomAD frequency: 0.00002  dbSNP: rs769108524
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002462898 SCV002755580 uncertain significance Inborn genetic diseases 2020-08-26 criteria provided, single submitter clinical testing The p.V381M variant (also known as c.1141G>A), located in coding exon 10 of the IKBKAP gene, results from a G to A substitution at nucleotide position 1141. The valine at codon 381 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV002480905 SCV002776254 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278726 SCV001465758 uncertain significance Familial dysautonomia 2020-08-19 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.