ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1948G>A (p.Gly650Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002913107 SCV003249488 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 650 of the ARFGEF2 protein (p.Gly650Ser). This variant is present in population databases (rs201921329, gnomAD 0.01%). 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: 2043588). 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 disruptive. 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.
Ambry Genetics RCV002913106 SCV003729396 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.1948G>A (p.G650S) alteration is located in exon 14 (coding exon 14) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 1948, causing the glycine (G) at amino acid position 650 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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