Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000049681 | SCV000485325 | pathogenic | Neuronal ceroid lipofuscinosis 3 | 2015-11-20 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000819681 | SCV000960355 | pathogenic | Neuronal ceroid lipofuscinosis | 2023-11-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val142Leufs*39) in the CLN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN3 are known to be pathogenic (PMID: 9311735, 28542676). This variant is present in population databases (rs386833720, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with juvenile-onset neuronal ceroid lipofuscinosis (JNCL) (PMID: 9311735, 17947292, 20187884). ClinVar contains an entry for this variant (Variation ID: 56269). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000819681 | SCV001372283 | pathogenic | Neuronal ceroid lipofuscinosis | 2020-06-01 | criteria provided, single submitter | clinical testing | Variant summary: CLN3 c.424delG (p.Val142LeufsX39) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251294 control chromosomes (gnomAD). c.424delG has been reported in the literature in the compound heterozygous or homozygous state in multiple individuals affected with Juvenile Neuronal Ceroid-Lipofuscinosis (Juvenile Batten Disease) (e.g. Kousi_2012, Munroe_1997). These data indicate that the variant is very likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Fulgent Genetics, |
RCV000049681 | SCV002789673 | pathogenic | Neuronal ceroid lipofuscinosis 3 | 2021-08-18 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000049681 | SCV004214348 | pathogenic | Neuronal ceroid lipofuscinosis 3 | 2023-01-12 | criteria provided, single submitter | clinical testing | |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049681 | SCV000082088 | probable-pathogenic | Neuronal ceroid lipofuscinosis 3 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |