ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002644413 SCV003522083 pathogenic Neuronal ceroid lipofuscinosis 2022-02-08 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 affected with CLN3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Trp42*) 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 RCV003465993 SCV004214344 likely pathogenic Neuronal ceroid lipofuscinosis 3 2023-02-27 criteria provided, single submitter clinical testing

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