Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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). |
Gene |
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 |
RCV000866884 | SCV001008042 | likely benign | Rett syndrome, congenital variant | 2024-01-22 | criteria provided, single submitter | clinical testing |