ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)

gnomAD frequency: 0.00001  dbSNP: rs1581373871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806635 SCV000946645 uncertain significance Axenfeld-Rieger syndrome type 3 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 162 of the FOXC1 protein (p.Phe162Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with FOXC1-related disease. This variant is not present in population databases (ExAC no frequency).
Human Developmental Genetics Laboratory, Medical College of Wisconsin RCV000806635 SCV002538976 likely pathogenic Axenfeld-Rieger syndrome type 3 2022-06-23 criteria provided, single submitter research

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