ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)

gnomAD frequency: 0.00107  dbSNP: rs146772848
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193884 SCV000246460 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355809 SCV000434277 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) RCV000726764 SCV000702911 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000726764 SCV000729061 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing
Invitae RCV000726764 SCV001016113 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000726764 SCV002541686 uncertain significance not provided 2021-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927760 SCV004746603 likely benign ARFGEF2-related disorder 2022-02-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.