Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431899 | SCV000512773 | likely benign | not specified | 2015-11-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001861492 | SCV002283097 | uncertain significance | Neuronal ceroid lipofuscinosis | 2022-07-25 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 1 of the CTSD gene. It does not directly change the encoded amino acid sequence of the CTSD protein. This variant is present in population databases (rs371858126, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CTSD-related conditions. ClinVar contains an entry for this variant (Variation ID: 377758). 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. |