ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.285del (p.Leu96fs)

dbSNP: rs1566080738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778397 SCV000914626 uncertain significance Aicardi-Goutieres syndrome 2 2018-12-12 criteria provided, single submitter clinical testing The RNASEH2B c.283delT (p.Leu96CysfsTer7) variant results in a frameshift, and is predicted to result in premature termination of the protein. A PubMed and Google Scholar search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Leu96CysfsTer7 variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Aicardi-Goutieres syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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