Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002281744 | SCV002572080 | likely pathogenic | Neuronal ceroid lipofuscinosis | 2022-08-16 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 10-16, which includes the last exon in the CLN3 gene, and might extend downstream of the assayed region of the gene. A presumed nomenclature of c.(677+1_678-1)_(*238_?)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is not expected to cause nonsense mediated decay (NMD), but is predicted to cause a large truncation of the encoded protein (removing amino acids 226-438), and likely replacing it with an incorrect sequence. The variant was absent in 21694 control chromosomes (gnomAD database, structural variants dataset). A large deletion variant corresponding to exon 10-16 deletion has been reported in an affected individual (Kousi_2012), however, no phenotype and genotype details were provided. To our knowledge no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |