ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) (rs128624220)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000518515 SCV000229995 pathogenic not provided 2014-07-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518515 SCV000612227 likely pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000518515 SCV001249770 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV000012053 SCV001578274 pathogenic Adrenoleukodystrophy 2020-02-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 418 of the ABCD1 protein (p.Arg418Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (X-ALD) (PMID: 7849723, 8566952, 10737980, 10980539). This variant is also known as c.1638C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 11301). 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: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012053 SCV000032287 pathogenic Adrenoleukodystrophy 1994-10-01 no assertion criteria provided literature only

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.