ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)

gnomAD frequency: 0.00001  dbSNP: rs759830733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670971 SCV000795902 likely pathogenic Neuronal ceroid lipofuscinosis 8 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868250 SCV002227953 pathogenic Neuronal ceroid lipofuscinosis 2021-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CLN8-related conditions. ClinVar contains an entry for this variant (Variation ID: 555198). 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 sequence change creates a premature translational stop signal (p.Lys95*) 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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