ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.281A>C (p.Asp94Ala)

gnomAD frequency: 0.00001  dbSNP: rs1206977063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701496 SCV000830299 likely benign Rett syndrome, congenital variant 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972883 SCV005584200 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.281A>C (p.D94A) alteration is located in exon 1 (coding exon 1) of the FOXG1 gene. This alteration results from a A to C substitution at nucleotide position 281, causing the aspartic acid (D) at amino acid position 94 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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