ClinVar Miner

Submissions for variant NM_001142279.2(RNASEH2B):c.698+1G>A (rs367915667)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516648 SCV000614884 likely pathogenic not provided 2017-10-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001192743 SCV001361051 likely pathogenic Aicardi Goutieres syndrome 2019-09-04 criteria provided, single submitter clinical testing Variant summary: RNASEH2B c.698+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.2e-05 in 31368 control chromosomes (gnomAD, genomes dataset). To our knowledge, no occurrence of c.698+1G>A in individuals affected with Aicardi Goutieres syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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