ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp)

gnomAD frequency: 0.00001  dbSNP: rs765368182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873737 SCV002116106 uncertain significance Aicardi-Goutieres syndrome 2 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 188 of the RNASEH2B protein (p.Arg188Trp). This variant is present in population databases (rs765368182, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1174789). 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: "Benign"; Align-GVGD: "Class C0"). 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528844 SCV001741271 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528844 SCV001974023 uncertain significance not provided no assertion criteria provided clinical testing

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