ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.790+532_1056+1445del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780190 SCV000917248 pathogenic Juvenile neuronal ceroid lipofuscinosis 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The CLN3 c.790+532_1056+1445del (a.k.a. c.791-802_1056+1445del2815; 2.8 kb deletion; exons 10-13del) variant involves the deletion of exons 11-14. This variant t is expected to result in a frameshift change and a premature termination codon (p.Gly264Valfs*29), predicted to cause a truncated or absent CLN3 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, ESP, 1000G, gnomAD) cannot detect deletions this large. This variant has been reported in many JNCL patients and absent in 148 control chromosomes tested (IBDC_ 1995, Lauronen_1999). Functional study using a fission yeast model showed that the variant could rescue the vacuole size defect as effectively as the full-length protein, however, variant failed to rescue other phenoytpes such as monopolarity and curving defects (Haines_2009). Taken together, this variant is classified as pathogenic.

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