Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187113 | SCV000240688 | pathogenic | not provided | 2015-03-28 | criteria provided, single submitter | clinical testing | The c.395_396delCT frameshift mutation in the CLN6 gene has been reported as a homozygous mutation in an individual with a clinical diagnosis of variant late-infantile neuronal ceroid lipofuscinosis (vLINCL) and was subsequently identified in multiple other patients with vLINCL who harbored a second mutation on the other allele (Wheeler et al., 2002; gene specific database). The c.395_396delCT mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, we interpret c.395_396delCT to be a disease-causing mutation. |
Invitae | RCV000465745 | SCV000549216 | pathogenic | Neuronal ceroid lipofuscinosis | 2019-09-03 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides in exon 4 of the CLN6 mRNA (c.395_396delCT), causing a frameshift at codon 132. This creates a premature translational stop signal (p.Ser132Cysfs*18) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN6 are known to be pathogenic. This particular variant has been reported in the literature to occur as homozygous (PMID: 11727201) and as heterozygous with a second pathogenic variant (PMID: 19135028) in individuals with late-infantile neuronal ceroid lipofuscinosis. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000004297 | SCV000024463 | pathogenic | Neuronal ceroid lipofuscinosis 6 | 2002-02-01 | no assertion criteria provided | literature only |