ClinVar Miner

Submissions for variant NM_001367823.1(ARHGEF18):c.1105G>C (p.Gly369Arg)

dbSNP: rs115555106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946274 SCV002216500 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1434263). This variant has not been reported in the literature in individuals affected with ARHGEF18-related conditions. This variant is present in population databases (rs115555106, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 181 of the ARHGEF18 protein (p.Gly181Arg).
Fulgent Genetics, Fulgent Genetics RCV002484657 SCV002781900 uncertain significance Retinitis pigmentosa 78 2021-07-24 criteria provided, single submitter clinical testing

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