ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln)

gnomAD frequency: 0.00003  dbSNP: rs143956045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335420 SCV001528566 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2018-05-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001664618 SCV001874185 uncertain significance not provided 2021-08-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001664618 SCV002304051 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 113 of the ARFGEF2 protein (p.Arg113Gln). This variant is present in population databases (rs143956045, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ARFGEF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 813556). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252729 SCV001163872 uncertain significance Microcephaly no assertion criteria provided research

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