Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV001374416 | SCV001571375 | likely pathogenic | Idiopathic basal ganglia calcification 1 | 2021-04-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001751740 | SCV001986321 | uncertain significance | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing | Identified a patient with a diagnosis of idiopathic basal ganglia calcification (Hsu et al., 2013) and in siblings with brain calcifications and tonic-clonic seizures (Fjaer et al., 2015) in published literature. However, the siblings were also found to have a variant in another gene that may be contributing to the phenotype (Fjaer et al., 2015).; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23334463, 26475232, 30609140, 25212438, 25726928, 31618668) |
Invitae | RCV001751740 | SCV002240262 | pathogenic | not provided | 2022-01-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1064453). This missense change has been observed in individuals with primary basal ganglia calcification (PMID: 23334463, 26475232, 31618668; Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs763252801, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 568 of the SLC20A2 protein (p.Pro568Leu). |
Genetics and Molecular Pathology, |
RCV001374416 | SCV004175581 | likely pathogenic | Idiopathic basal ganglia calcification 1 | 2022-10-25 | criteria provided, single submitter | clinical testing |