ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.438del (p.His148fs)

dbSNP: rs1555273992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674313 SCV000799629 likely pathogenic Neuronal ceroid lipofuscinosis 5 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV001049322 SCV001213367 pathogenic Neuronal ceroid lipofuscinosis 2019-11-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the CLN5 protein. Other variant(s) that disrupt this region (p.Trp224*) have been determined to be pathogenic (PMID: 23374165, 20157158). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 558089). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the CLN5 gene (p.His197Ilefs*34). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 211 amino acids of the CLN5 protein.
Genome-Nilou Lab RCV000674313 SCV001977479 pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing

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