Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV002254271 | SCV002525699 | uncertain significance | not provided | 2021-09-03 | criteria provided, single submitter | clinical testing | The PDGFRB c.2959C>T variant, located in exon 22, was identified in 1% of reads, also consistent with somatic origin. This variant has been observed in the heterozygous state in an individual with idiopathic ganglia calcification (Ref 7). The p.Arg987Trp variant has been shown to reduce protein levels when overexpressed (PMID: 26599395). This variant has also been observed in 8 heterozygotes in large population studies (gnomAD v2.1.1). |
OMIM | RCV000032789 | SCV000056557 | pathogenic | Basal ganglia calcification, idiopathic, 4 | 2013-01-08 | no assertion criteria provided | literature only | |
Gene |
RCV000032789 | SCV000086886 | not provided | Basal ganglia calcification, idiopathic, 4 | no assertion provided | literature only |