Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000002674 | SCV000793505 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000689128 | SCV000816767 | pathogenic | Neuronal ceroid lipofuscinosis | 2018-05-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp75*) in the CLN5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs104894385, ExAC 0.01%). This variant has been reported as homozygous in a family affected with Finnish variant late infantile neuronal ceroid lipofuscinosis (PMID: 9662406) and it has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with a CLN5-related condition (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 2565). Loss-of-function variants in CLN5 are known to be pathogenic (PMID: 20157158). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000002674 | SCV000022832 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 1998-07-01 | no assertion criteria provided | literature only | |
Gene |
RCV000002674 | SCV000086948 | pathologic | Neuronal ceroid lipofuscinosis 5 | 2013-08-01 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |