ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1320C>G (p.Ser440Arg)

gnomAD frequency: 0.00002  dbSNP: rs998203463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002139622 SCV002415020 likely benign Axenfeld-Rieger syndrome type 3 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003348802 SCV004060224 uncertain significance Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing The c.1320C>G (p.S440R) alteration is located in exon 1 (coding exon 1) of the FOXC1 gene. This alteration results from a C to G substitution at nucleotide position 1320, causing the serine (S) at amino acid position 440 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004753513 SCV005354256 likely benign FOXC1-related disorder 2024-09-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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