ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.340-1del

dbSNP: rs1057516390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409719 SCV000485580 likely pathogenic Neuronal ceroid lipofuscinosis 5 2016-01-07 criteria provided, single submitter clinical testing
Invitae RCV003532090 SCV004270373 likely pathogenic Neuronal ceroid lipofuscinosis 2023-08-30 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 370310). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a splice site in intron 2 of the CLN5 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 CLN5 are known to be pathogenic (PMID: 20157158).

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