ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)

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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 RCV002800232 SCV003024765 uncertain significance Aicardi-Goutieres syndrome 2 2022-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn305Lysfs*2) in the RNASEH2B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the RNASEH2B protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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