Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483404 | SCV000570755 | uncertain significance | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000798755 | SCV000938385 | uncertain significance | Neuronal ceroid lipofuscinosis | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln18*) in the CLN5 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is present in population databases (rs773979248, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 421520). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV001785627 | SCV002027048 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001785627 | SCV002783087 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2021-12-10 | criteria provided, single submitter | clinical testing |