ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068009 SCV001233096 uncertain significance Aicardi Goutieres syndrome 4 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 76 of the RNASEH2A protein (p.Arg76Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs747608935, ExAC 0.02%). This variant has not been reported in the literature in individuals with RNASEH2A-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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