ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.954_962+18del (rs386833741)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035044 SCV001198352 pathogenic Neuronal ceroid lipofuscinosis 2019-12-23 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 13 (c.954_962+18del) of the CLN3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with a CLN3-related condition (PMID: 21990111). ClinVar contains an entry for this variant (Variation ID: 56293). 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. Loss-of-function variants in CLN3 are known to be pathogenic (PMID: 9311735, 28542676). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049705 SCV000082112 probable-pathogenic Juvenile neuronal ceroid lipofuscinosis no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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