ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)

gnomAD frequency: 0.00079  dbSNP: rs28937880
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000005353 SCV000267212 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV000710616 SCV000521221 benign not provided 2019-12-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24278701, 23755938, 14647276, 17850229, 20857375, 26765562, 27535533, 28333917)
Athena Diagnostics RCV000425899 SCV000840859 likely benign not specified 2020-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710616 SCV001014932 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000005353 SCV001159585 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2019-06-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000005353 SCV001302284 benign Periventricular heterotopia with microcephaly, autosomal recessive 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000005353 SCV001435235 benign Periventricular heterotopia with microcephaly, autosomal recessive criteria provided, single submitter research The homozygous p.Glu209Lys variant in ARFGEF has been identified in at least 1 Turkish individual with consanguineous parents and periventricular heterotopia with microcephaly (PMID: 14647276, 28333917). This variant has also been identified in >1% of Latino chromosomes and 1 homozygote by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive periventricular heterotopia with microcephaly.
OMIM RCV000005353 SCV000025531 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2004-01-01 no assertion criteria provided literature only

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