ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)

gnomAD frequency: 0.00098  dbSNP: rs147534008
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116397 SCV000150321 likely benign not specified 2013-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116397 SCV000311486 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298633 SCV000434276 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2018-01-13 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.
Invitae RCV000874261 SCV001016406 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000874261 SCV001943963 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874261 SCV003916302 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ARFGEF2: BP4, BP7

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