ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)

dbSNP: rs2048831313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267081 SCV001445262 uncertain significance Inborn genetic diseases 2019-06-26 criteria provided, single submitter clinical testing
GeneDx RCV001587309 SCV001824841 likely pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35638461)
Labcorp Genetics (formerly Invitae), Labcorp RCV002298921 SCV002592699 pathogenic Developmental and epileptic encephalopathy, 8 2023-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 985917). This missense change has been observed in individual(s) with developmental and epileptic encephalopathy (PMID: 35638461; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 365 of the ARHGEF9 protein (p.Arg365His).
GenomeConnect, ClinGen RCV001824943 SCV002075167 not provided Developmental and epileptic encephalopathy, 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-14-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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