ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003067116 SCV003453141 likely 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 2022-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003383010 SCV004090753 uncertain significance Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.1399G>A (p.G467R) alteration is located in exon 10 (coding exon 9) of the PDGFRB gene. This alteration results from a G to A substitution at nucleotide position 1399, causing the glycine (G) at amino acid position 467 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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