ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.245-8A>G

gnomAD frequency: 0.00003  dbSNP: rs1057517815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414685 SCV000490773 likely pathogenic not provided 2019-05-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26633542)
Labcorp Genetics (formerly Invitae), Labcorp RCV001865284 SCV002185048 uncertain significance Aicardi-Goutieres syndrome 2 2022-05-31 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the RNASEH2B gene. It does not directly change the encoded amino acid sequence of the RNASEH2B protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of RNASEH2B-related conditions (PMID: 26633542). ClinVar contains an entry for this variant (Variation ID: 372492). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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