ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu)

gnomAD frequency: 0.00003  dbSNP: rs770203126
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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 RCV000650221 SCV000772058 uncertain significance Aicardi-Goutieres syndrome 2 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 90 of the RNASEH2B protein (p.Pro90Leu). This variant is present in population databases (rs770203126, gnomAD 0.2%). This missense change has been observed in individual(s) with Aicardi-Goutières syndrome (PMID: 33482855). ClinVar contains an entry for this variant (Variation ID: 540249). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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