ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly)

gnomAD frequency: 0.00006  dbSNP: rs749085589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063942 SCV001228813 uncertain significance Aicardi-Goutieres syndrome 4 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 48 of the RNASEH2A protein (p.Ala48Gly). This variant is present in population databases (rs749085589, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with RNASEH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 858132). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine 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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