ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)

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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 RCV002707587 SCV003553112 uncertain significance Inborn genetic diseases 2020-12-28 criteria provided, single submitter clinical testing The c.2791G>A (p.D931N) alteration is located in exon 20 (coding exon 19) of the PDGFRB gene. This alteration results from a G to A substitution at nucleotide position 2791, causing the aspartic acid (D) at amino acid position 931 to be replaced by an asparagine (N). The p.D931N 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 RCV003108166 SCV003779657 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 2024-02-23 criteria provided, single submitter clinical testing

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