ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.790+1del

dbSNP: rs1555468374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668016 SCV000792558 likely pathogenic Neuronal ceroid lipofuscinosis 3 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV001378087 SCV001575575 pathogenic Neuronal ceroid lipofuscinosis 2022-02-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as 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: 552706). This variant is also known as c.790+1del. This variant has not been reported in the literature in individuals affected with CLN3-related conditions. This sequence change creates a premature translational stop signal (Splice donor) in the CLN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN3 are known to be pathogenic (PMID: 9311735, 28542676).
Baylor Genetics RCV000668016 SCV004214334 likely pathogenic Neuronal ceroid lipofuscinosis 3 2023-05-27 criteria provided, single submitter clinical testing

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