ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr)

gnomAD frequency: 0.00001  dbSNP: rs747995413
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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 RCV000823496 SCV000964357 uncertain significance Aicardi-Goutieres syndrome 2 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 220 of the RNASEH2B protein (p.Ile220Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs747995413, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with RNASEH2B-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. 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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