ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.3129G>T (p.Leu1043Phe)

gnomAD frequency: 0.00063  dbSNP: rs148770948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001955388 SCV002209137 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1043 of the ARFGEF2 protein (p.Leu1043Phe). This variant is present in population databases (rs148770948, gnomAD 0.2%). 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: 1436986). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003948833 SCV004763201 likely benign ARFGEF2-related disorder 2024-01-03 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).

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