ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003071101 SCV003450776 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 2022-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070350 SCV005002073 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.542G>C (p.G181A) alteration is located in exon 4 (coding exon 3) of the PDGFRB gene. This alteration results from a G to C substitution at nucleotide position 542, causing the glycine (G) at amino acid position 181 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003898732 SCV004708244 uncertain significance PDGFRB-related disorder 2024-03-01 no assertion criteria provided clinical testing The PDGFRB c.542G>C variant is predicted to result in the amino acid substitution p.Gly181Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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