ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)

dbSNP: rs1556401714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498530 SCV000589888 pathogenic not provided 2019-08-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 28589176, 29130122, 31035234, 32533790, 32939676)
AiLife Diagnostics, AiLife Diagnostics RCV000498530 SCV002502962 likely pathogenic not provided 2020-05-11 criteria provided, single submitter clinical testing
Invitae RCV000723327 SCV004299580 pathogenic Developmental and epileptic encephalopathy, 8 2023-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 104 of the ARHGEF9 protein (p.Arg104Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ARHGEF9-related conditions (PMID: 28589176, 32939676). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 432195). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ARHGEF9 protein function. For these reasons, this variant has been classified as Pathogenic.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723327 SCV000854721 likely pathogenic Developmental and epileptic encephalopathy, 8 2018-07-06 no assertion criteria provided clinical testing

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