ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)

dbSNP: rs74555752
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000001325 SCV001368623 likely pathogenic Aicardi-Goutieres syndrome 2 2019-03-20 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PP2,PP3, PP5.
Blueprint Genetics RCV000001325 SCV001426155 pathogenic Aicardi-Goutieres syndrome 2 2018-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000001325 SCV002809943 pathogenic Aicardi-Goutieres syndrome 2 2023-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000001325 SCV003442144 pathogenic Aicardi-Goutieres syndrome 2 2025-01-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 185 of the RNASEH2B protein (p.Val185Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Aicardi-Goutieres syndrome (PMID: 16845400, 28332073, 29239743, 31130681). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1263). Invitae Evidence 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 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 RNASEH2B protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on RNASEH2B function (PMID: 19015152, 19034401, 30889214, 31529068). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000001325 SCV004805163 likely pathogenic Aicardi-Goutieres syndrome 2 2024-12-04 criteria provided, single submitter clinical testing
OMIM RCV000001325 SCV000021475 pathogenic Aicardi-Goutieres syndrome 2 2006-08-01 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729330 SCV001979533 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729330 SCV001980274 pathogenic not provided no assertion criteria provided clinical testing

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