ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)

dbSNP: rs2046158549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074167 SCV001239737 likely pathogenic Retinal dystrophy 2019-02-19 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376248 SCV001573322 likely pathogenic Neuronal ceroid lipofuscinosis 3 2021-04-08 criteria provided, single submitter research The CLN3 c.751C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862820 SCV002231827 pathogenic Neuronal ceroid lipofuscinosis 2023-08-18 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: 866297). This variant has not been reported in the literature in individuals affected with CLN3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln251*) 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 RCV001376248 SCV004214312 likely pathogenic Neuronal ceroid lipofuscinosis 3 2023-10-02 criteria provided, single submitter clinical testing

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