ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg)

gnomAD frequency: 0.00007  dbSNP: rs901581290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948628 SCV002208700 uncertain significance Axenfeld-Rieger syndrome type 3 2021-08-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 270 of the FOXC1 protein (p.Gly270Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with FOXC1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002479484 SCV002794422 uncertain significance Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 2022-04-22 criteria provided, single submitter clinical testing

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