ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.233dup (p.Thr80fs)

dbSNP: rs386833712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049673 SCV000487278 likely pathogenic Neuronal ceroid lipofuscinosis 3 2016-11-07 criteria provided, single submitter clinical testing
Invitae RCV003531947 SCV004297710 pathogenic Neuronal ceroid lipofuscinosis 2023-08-14 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: 56261). This premature translational stop signal has been observed in individual(s) with CLN3-related conditions (PMID: 21990111). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr80Asnfs*12) 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).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049673 SCV000082080 probable-pathogenic Neuronal ceroid lipofuscinosis 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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