ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.424del (p.Val142fs) (rs386833720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049681 SCV000485325 pathogenic Juvenile neuronal ceroid lipofuscinosis 2015-11-20 criteria provided, single submitter clinical testing
Invitae RCV000819681 SCV000960355 pathogenic Neuronal ceroid lipofuscinosis 2018-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val142Leufs*39) in the CLN3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with juvenile-onset neuronal ceroid lipofuscinosis (JNCL) (PMID: 20187884, 17947292, 9311735). ClinVar contains an entry for this variant (Variation ID: 56269). Loss-of-function variants in CLN3 are known to be pathogenic (PMID: 9311735, 28542676). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049681 SCV000082088 probable-pathogenic Juvenile neuronal ceroid lipofuscinosis no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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