ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.861+5G>C (rs879253963)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235754 SCV000292964 uncertain significance not provided 2015-07-22 criteria provided, single submitter clinical testing The c.861+5 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.861+5 G>C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.861+5 G>C may damage or destroy the natural splice donor site in intron 8 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this is a pathogenic variant or a rare benign variant.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172804 SCV001335873 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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