ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) (rs1555274338)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tehran Medical Genetics Laboratory RCV000625737 SCV000692567 likely pathogenic Neuronal ceroid lipofuscinosis 5 criteria provided, single submitter clinical testing
GeneDx RCV000627363 SCV000748356 likely pathogenic not provided 2018-12-04 criteria provided, single submitter clinical testing The W274X variant in the CLN5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation as the last 134 amino acids are lost. The W274X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W274X as a likely pathogenic variant.

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