ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003623338 SCV004455474 pathogenic Developmental and epileptic encephalopathy, 8 2023-04-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ARHGEF9-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp65*) in the ARHGEF9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARHGEF9 are known to be pathogenic (PMID: 25678704, 26834553, 28589176).

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