ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.808_823del (p.Gly270fs) (rs386833983)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000675522 SCV000230322 pathogenic not provided 2014-11-08 criteria provided, single submitter clinical testing
Invitae RCV001390094 SCV001591712 pathogenic Neuronal ceroid lipofuscinosis 2020-07-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLN5 gene (p.Gly319Phefs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acids of the CLN5 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 56547). This variant disrupts the C-terminus of the CLN5 protein. Other variant(s) that disrupt this region (p.Tyr392*) have been determined to be pathogenic (PMID: 9662406, 11971870, 20052765, 24038957, 24058541). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049960 SCV000082369 probable-pathogenic Neuronal ceroid lipofuscinosis 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000675522 SCV000801213 likely pathogenic not provided 2017-06-01 no assertion criteria provided clinical testing

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