ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.468C>G (p.Tyr156Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006912 SCV005636578 likely pathogenic Aicardi-Goutieres syndrome 2 2024-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005006912 SCV005760099 pathogenic Aicardi-Goutieres syndrome 2 2024-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr156*) in the RNASEH2B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RNASEH2B are known to be pathogenic (PMID: 17846997). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. For these reasons, this variant has been classified as Pathogenic.

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