ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)

gnomAD frequency: 0.00001  dbSNP: rs397509382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 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
GeneReviews RCV000032789 SCV000086886 not provided Basal ganglia calcification, idiopathic, 4 no assertion provided literature only

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