ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs)

dbSNP: rs75254367
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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 RCV002000822 SCV002269265 uncertain significance Aicardi-Goutieres syndrome 2 2022-07-06 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the RNASEH2B gene (p.Ile309Lysfs*27). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the RNASEH2B protein and extend the protein by 22 additional amino acid residues. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1485552). 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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