ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.3718A>G (p.Ile1240Val)

gnomAD frequency: 0.00004  dbSNP: rs762641248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335421 SCV001528567 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2018-09-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002546732 SCV003246711 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1033104). This variant has not been reported in the literature in individuals affected with ARFGEF2-related conditions. This variant is present in population databases (rs762641248, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1240 of the ARFGEF2 protein (p.Ile1240Val).

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