ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn)

gnomAD frequency: 0.00039  dbSNP: rs142371761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590511 SCV001825606 uncertain significance not provided 2021-01-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002579492 SCV003219037 likely benign Axenfeld-Rieger syndrome type 3 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002579493 SCV003650308 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.544G>A (p.D182N) alteration is located in exon 1 (coding exon 1) of the FOXC1 gene. This alteration results from a G to A substitution at nucleotide position 544, causing the aspartic acid (D) at amino acid position 182 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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