ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.455+1G>A

dbSNP: rs2132555188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049688 SCV002313311 likely pathogenic not provided 2021-08-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the RRM2B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RRM2B are known to be pathogenic (PMID: 8130196, 12859174, 17486094). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with RRM2B-related conditions. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002498084 SCV002808708 likely pathogenic Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 2022-03-28 criteria provided, single submitter clinical testing

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