ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.790+2T>C

dbSNP: rs1397197980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057267 SCV001221750 likely pathogenic Neuronal ceroid lipofuscinosis 2019-12-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 10 of the CLN3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CLN3-related conditions. 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CLN3 are known to be pathogenic (PMID: 9311735, 28542676). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.
Revvity Omics, Revvity RCV001784607 SCV002017381 pathogenic Neuronal ceroid lipofuscinosis 3 2019-09-13 criteria provided, single submitter clinical testing

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