ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1337A>G (p.His446Arg)

gnomAD frequency: 0.00007  dbSNP: rs1413102496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001725857 SCV001950185 uncertain significance Axenfeld-Rieger syndrome type 3 2021-04-12 criteria provided, single submitter clinical testing Based on allele frequency, in-silico prediction scores, and a certain overlap with the clinical phenotype, we interpreted this variant at least as of uncertain significance. The lack of one or more of the following features has discouraged further investigations: lack of a possible second hit in autosomal recessive conditions, presence of healthy controls in databases for autosomal dominant conditions, presence of unmatching cardinal clinical features in the patient or in the known gene-disease association, and/or variant type outside the known gene mutational spectrum.
Fulgent Genetics, Fulgent Genetics RCV002488486 SCV002793848 uncertain significance Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980629 SCV005583731 uncertain significance Inborn genetic diseases 2024-09-27 criteria provided, single submitter clinical testing The c.1337A>G (p.H446R) alteration is located in exon 1 (coding exon 1) of the FOXC1 gene. This alteration results from a A to G substitution at nucleotide position 1337, causing the histidine (H) at amino acid position 446 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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