ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1808A>C (p.Asp603Ala)

dbSNP: rs1600626622
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820577 SCV002070202 uncertain significance not specified 2020-03-04 criteria provided, single submitter clinical testing DNA sequence analysis of the ARFGEF2 gene demonstrated a sequence change, c.1808A>C, in exon 14 that results in an amino acid change, p.Asp603Ala. This sequence change does not appear to have been previously described in patients with ARFGEF2-related disorders.This sequence change is absent from the large population databases (ExAC and gnomAD). The p.Asp603Ala change affects a poorly conserved amino acid residue located in a domain of the ARFGEF2 protein that is not known to be functional. The p.Asp603Ala substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asp603Ala change remains unknown at this time.

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.