ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu)

gnomAD frequency: 0.00001  dbSNP: rs1395602025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224374 SCV001396564 uncertain significance Aicardi-Goutieres syndrome 2 2019-06-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RNASEH2B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 30 of the RNASEH2B protein (p.Lys30Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.

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