ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)

gnomAD frequency: 0.00002  dbSNP: rs201601641
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001054856 SCV001219212 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 753 of the ELP1 protein (p.Asn753Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs201601641, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV002479333 SCV002783799 uncertain significance Medulloblastoma; Familial dysautonomia 2022-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827349 SCV002082090 uncertain significance Familial dysautonomia 2020-07-23 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.