ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg)

gnomAD frequency: 0.00003  dbSNP: rs1277775861
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557071 SCV000647086 uncertain significance Axenfeld-Rieger syndrome type 3 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 269 of the FOXC1 protein (p.Ser269Arg). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FOXC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 469654). 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.

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