ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.263del (p.Asp88fs)

dbSNP: rs1057516582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410063 SCV000485901 likely pathogenic Neuronal ceroid lipofuscinosis 8 2016-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003532091 SCV004310388 pathogenic Neuronal ceroid lipofuscinosis 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370553). This variant has not been reported in the literature in individuals affected with CLN8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp88Alafs*39) in the CLN8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN8 are known to be pathogenic (PMID: 15024724).

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