Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001306863 | SCV001496248 | uncertain significance | Neuronal ceroid lipofuscinosis | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change affects codon 323 of the CTSD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CTSD protein. This variant is present in population databases (rs774332555, gnomAD 0.007%). 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: 1009383). 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. |