ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.725del (p.Thr242fs)

dbSNP: rs2129015276
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266506 SCV002547516 likely pathogenic Neuronal ceroid lipofuscinosis 2022-05-18 criteria provided, single submitter clinical testing Variant summary: CLN8 c.725delC (p.Thr242SerfsX2) results in a premature termination codon, predicted to disrupt the last 45 amino acids of the CLN8 protein and not anticipated to result in nonsense mediated decay. At least one truncation downstream of this position has been classified as likely pathogenic in ClinVar database (Variant ID: 558594). The variant was absent in 251490 control chromosomes (gnomAD). To our knowledge, no occurrence of c.725delC in individuals affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease) and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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