ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)

dbSNP: rs1555274373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674729 SCV000800120 likely pathogenic Neuronal ceroid lipofuscinosis 5 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV002544673 SCV003199431 pathogenic Neuronal ceroid lipofuscinosis 2022-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu355*) in the CLN5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 53 amino acid(s) of the CLN5 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 558456). This variant disrupts a region of the CLN5 protein in which other variant(s) (p.Tyr392*) have been determined to be pathogenic (PMID: 9662406, 11971870, 20052765, 24038957, 24058541). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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