ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003602284 SCV004500288 pathogenic Aicardi-Goutieres syndrome 2 2023-03-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr23*) 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 present in population databases (rs778329909, gnomAD 0.0009%). 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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