ClinVar Miner

Submissions for variant NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly) (rs939276490)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704690 SCV000833648 uncertain significance Aicardi Goutieres syndrome 3 2018-03-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 87 of the RNASEH2C protein (p.Glu87Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RNASEH2C-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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