ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser)

dbSNP: rs1481638796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001530994 SCV001745917 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495858 SCV002778139 uncertain significance Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 2022-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568183 SCV002973073 uncertain significance Axenfeld-Rieger syndrome type 3 2022-08-16 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1175734). This variant has not been reported in the literature in individuals affected with FOXC1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 534 of the FOXC1 protein (p.Pro534Ser).

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