Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052450 | SCV001216660 | uncertain significance | Neuronal ceroid lipofuscinosis | 2021-10-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, a(n) neutral and non-polar amino acid, with serine, a(n) neutral and polar amino acid, at codon 25 of the CTSD protein (p.Pro25Ser). This variant is present in population databases (rs769626991, gnomAD 0.003%). 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: 848648). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |