ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val)

gnomAD frequency: 0.00008  dbSNP: rs143523027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064926 SCV001229863 uncertain significance Aicardi-Goutieres syndrome 2 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 84 of the RNASEH2B protein (p.Leu84Val). This variant is present in population databases (rs143523027, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 858934). 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. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693560 SCV005192149 uncertain significance not provided criteria provided, single submitter not provided

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