ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1636A>G (p.Ile546Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004560444 SCV005047193 uncertain significance Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2024-02-04 criteria provided, single submitter clinical testing The PDGFRB c.1636A>G (p.Ile546Val) variant was identified at a near heterozygous allele fraction of 47%, a frequency which may be consistent with it being of germline origin. This variant, to our knowledge, has not been reported in the medical literature. This variant is observed on 51/1,610,294 alleles in the general population (gnomAD v4.0.0). Computational predictors suggest that this does not impact PDGFRB function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of the PDGFRB c.1636A>G (p.Ile546Val) variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV005216255 SCV005851617 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 2024-08-30 criteria provided, single submitter clinical testing

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