ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys)

gnomAD frequency: 0.00001  dbSNP: rs546042666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044470 SCV001208268 uncertain significance Aicardi-Goutieres syndrome 4 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 25 of the RNASEH2A protein (p.Arg25Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RNASEH2A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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