ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)

gnomAD frequency: 0.00001  dbSNP: rs770027941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813317 SCV000953675 uncertain significance Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2018-07-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PDGFRB-related disease. 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces tryptophan with arginine at codon 593 of the PDGFRB protein (p.Trp593Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.

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