ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.5G>A (p.Arg2Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004503253 SCV005002075 uncertain significance Inborn genetic diseases 2021-04-07 criteria provided, single submitter clinical testing The c.5G>A (p.R2Q) alteration is located in exon 2 (coding exon 1) of the PDGFRB gene. This alteration results from a G to A substitution at nucleotide position 5, causing the arginine (R) at amino acid position 2 to be replaced by a glutamine (Q). The p.R2Q alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005220906 SCV005861744 benign Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2024-03-20 criteria provided, single submitter clinical testing

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