ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser)

dbSNP: rs1429160286
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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 RCV001483325 SCV001687714 likely benign Rett syndrome, congenital variant 2022-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562686 SCV003644513 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.95A>G (p.N32S) alteration is located in exon 1 (coding exon 1) of the FOXG1 gene. This alteration results from a A to G substitution at nucleotide position 95, causing the asparagine (N) at amino acid position 32 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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