Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001333827 | SCV001526514 | likely pathogenic | Developmental and epileptic encephalopathy, 8 | 2018-02-02 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. Single nucleotide variations or chromosomal rearrangements disrupting ARHGEF9 gene have been reported in male patients with intellectual disabilities [PMID: 21633362, 23033978, 28589176] However, only chromosomal rearrangements but no single nucleotide variations disrupting ARHGEF9 gene have been reported in female patients with intellectual disabilities to our knowledge [PMID: 28589176, 27238888] In fact, a heterozygous c.4C>T (p.Q2*) variant in ARHGEF9 has been reported in a healthy mother [PMID: 21633362] |