ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn)

dbSNP: rs2048824581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224908 SCV001397135 uncertain significance Developmental and epileptic encephalopathy, 8 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 409 of the ARHGEF9 protein (p.Lys409Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARHGEF9-related conditions. ClinVar contains an entry for this variant (Variation ID: 952743). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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