ClinVar Miner

Submissions for variant NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp)

dbSNP: rs1428846232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001280978 SCV001468361 uncertain significance Aicardi-Goutieres syndrome 2 2021-03-30 criteria provided, single submitter clinical testing RNASEH2B NM_001142279.2 exon 10 p.Gly256Asp (c.767G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation for this variant is limited or unavailable; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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