ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del)

dbSNP: rs1466028633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV004771481 SCV005382544 benign FOXG1 disorder 2024-08-30 reviewed by expert panel curation The p.Gln70_Pro76del variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The p.Gln70_Pro76del variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx) (BP5_Strong). The highest population minor allele frequency of the p.Gln70_Pro76del variant in FOXG1 in gnomAD v4.1 is 0.00005955 in Admixed American population (not sufficient to meet PM2_Supporting criteria). In summary, the p.Gln70_Pro76del variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS2, BP5_Strong).
GeneDx RCV001719137 SCV000732051 likely benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311961 SCV000846673 uncertain significance Inborn genetic diseases 2024-08-23 criteria provided, single submitter clinical testing The c.209_229del21 (p.Q70_P76del) alteration is located in exon 1 (coding exon 1) of the FOXG1 gene. This alteration consists of an in-frame deletion of 21 nucleotides between nucleotide positions c.209 and c.229, resulting in the deletion of 7 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866884 SCV001008042 likely benign Rett syndrome, congenital variant 2024-01-22 criteria provided, single submitter clinical testing

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