ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) (rs386833697)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579238 SCV000680509 pathogenic not provided 2017-10-10 criteria provided, single submitter clinical testing The Q352X nonsense variant in the CLN3 gene has been reported previously in association with juvenile neuronal ceroid lipofucinosis (Munroe et al., 1997, Miller et al., 2013). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q352X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, this nonsense variant is considered to be a pathogenic variant.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049658 SCV000082065 probable-pathogenic Juvenile neuronal ceroid lipofuscinosis no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Counsyl RCV000049658 SCV000798303 pathogenic Juvenile neuronal ceroid lipofuscinosis 2018-03-06 no assertion criteria provided clinical testing

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