ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser)

gnomAD frequency: 0.00045  dbSNP: rs149471454
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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 RCV000194749 SCV000246458 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000710612 SCV000341517 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710612 SCV000840855 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000710612 SCV001987978 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252043 SCV002523460 uncertain significance See cases 2020-01-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Invitae RCV000710612 SCV002962500 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 58 of the ARFGEF2 protein (p.Pro58Ser). This variant is present in population databases (rs149471454, gnomAD 0.06%). 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: 210226). 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.

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