ClinVar Miner

Submissions for variant NC_000013.11:g.50929475_50929477del

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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 RCV003056017 SCV003351877 uncertain significance Aicardi-Goutieres syndrome 2 2022-04-30 criteria provided, single submitter clinical testing This variant, c.137_139del, results in the deletion of 1 amino acid(s) of the RNASEH2B protein (p.Gly46del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RNASEH2B-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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