ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.322-17A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV002508753 SCV002818104 uncertain significance Aicardi-Goutieres syndrome 2 2021-05-20 criteria provided, single submitter clinical testing [ACMG/AMP: PM2, PM3] This alteration is absent from or rarely observed in large-scale population databases [PM2] and is detected in trans with a known pathogenic variant [PM3].
Labcorp Genetics (formerly Invitae), Labcorp RCV002508753 SCV004297238 uncertain significance Aicardi-Goutieres syndrome 2 2023-06-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1810198). This variant has been observed in individual(s) with RNASEH2B-related conditions (PMID: 24183309). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 4 of the RNASEH2B gene. It does not directly change the encoded amino acid sequence of the RNASEH2B protein.

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