ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1569491711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810840 SCV000951076 uncertain significance Developmental and epileptic encephalopathy, 8 2020-02-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 19 of the ARHGEF9 protein (p.His19Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ARHGEF9-related disease. This variant is not present in population databases (ExAC no frequency).

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