ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.929del (p.Gly310fs)

dbSNP: rs1952051723
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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 RCV002048619 SCV002304620 uncertain significance Aicardi-Goutieres syndrome 2 2023-08-24 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1515807). This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the RNASEH2B gene (p.Gly310Glufs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the RNASEH2B protein and extend the protein by 21 additional amino acid residues.

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