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

gnomAD frequency: 0.00107  dbSNP: rs146772848

Total submissions: 7

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).