ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4704+16A>G

gnomAD frequency: 0.00003  dbSNP: rs559388032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522671 SCV000621957 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing The c.4704+16 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benignvariant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek etal., 2016). Several in-silico splice prediction models predict that c.4704+16 A>G creates a cryptic splice donor site which may supplant the natural splice donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based onthe currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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