ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp)

dbSNP: rs1760301176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Demoulin lab, University of Louvain RCV001249591 SCV001423560 pathogenic Infantile myofibromatosis 2018-08-10 criteria provided, single submitter research The mutation strongly activates PDGFRB signaling in in vitro assays (gain of function).
3billion, Medical Genetics RCV001810006 SCV002058431 uncertain significance Acroosteolysis-keloid-like lesions-premature aging syndrome 2022-01-03 criteria provided, single submitter clinical testing The variant reported as a pathogenic variant (ClinVar ID: VCV000973199) but it has only been observed as a somatic variant for a different phenotype, infantile myofibromatosis (OMIM: 228550), and therefore not used as a supporting evidence. It is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.805, 3CNET: 0.924, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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