ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.84G>A (p.Trp28Ter) (rs200348035)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521345 SCV000620322 likely pathogenic not provided 2017-08-23 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the CLN5 gene. The W77X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W77X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The W77X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Counsyl RCV000984156 SCV001132157 likely pathogenic Neuronal ceroid lipofuscinosis 5 2015-06-23 no assertion criteria provided clinical testing

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