ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.121del (p.Val41fs)

dbSNP: rs1452451283
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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 RCV000687242 SCV000814799 pathogenic Aicardi-Goutieres syndrome 2 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val41Leufs*23) 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. ClinVar contains an entry for this variant (Variation ID: 567225). For these reasons, this variant has been classified as Pathogenic.

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