ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met)

gnomAD frequency: 0.00001  dbSNP: rs1060501431
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463877 SCV000546170 uncertain significance Jeune thoracic dystrophy 2017-02-02 criteria provided, single submitter clinical testing This variant has been reported in individuals affected with asphyxiating thoracic dystrophy (ATD) (PMID: 23339108, 23456818) and has been shown to segregate with ATD in a single family (Invitae). This sequence change replaces isoleucine with methionine at codon 2819 of the DYNC2H1 protein (p.Ile2819Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003144267 SCV003830789 uncertain significance Asphyxiating thoracic dystrophy 3 2021-04-23 criteria provided, single submitter 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.