ClinVar Miner

Submissions for variant NM_001142279.2(RNASEH2B):c.136+1del (rs75186889)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685946 SCV000813447 pathogenic Aicardi Goutieres syndrome 2 2017-08-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the RNASEH2B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs762857414, ExAC 0.002%). This variant has been reported in individuals affected with Aicardi-Goutieres syndrome (PMID: 17846997). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RNASEH2B are known to be pathogenic (PMID: 17846997). For these reasons, this variant has been classified as Pathogenic.

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