ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu)

dbSNP: rs1951889253
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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 RCV001889097 SCV002154099 uncertain significance Aicardi-Goutieres syndrome 2 2022-09-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1385978). This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 189 of the RNASEH2B protein (p.Val189Leu).

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