ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.402+1G>A

dbSNP: rs2052538764
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Total submissions: 1
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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]

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