ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)

dbSNP: rs1554449047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672400 SCV000797500 likely pathogenic Neuronal ceroid lipofuscinosis 8 2018-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532124 SCV003317726 pathogenic Neuronal ceroid lipofuscinosis 2023-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln76*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLN8-related conditions. ClinVar contains an entry for this variant (Variation ID: 556399). For these reasons, this variant has been classified as Pathogenic.

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