ClinVar Miner

Submissions for variant NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala)

gnomAD frequency: 0.00006  dbSNP: rs201456476
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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 RCV000940881 SCV001086750 likely benign not provided 2023-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505396 SCV002799888 likely benign Distichiasis-lymphedema syndrome 2021-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003338875 SCV004067949 uncertain significance Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing The c.605A>C (p.D202A) alteration is located in exon 1 (coding exon 1) of the FOXC2 gene. This alteration results from a A to C substitution at nucleotide position 605, causing the aspartic acid (D) at amino acid position 202 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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