ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.646C>T (p.Arg216Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005391524 SCV006050604 uncertain significance Inborn genetic diseases 2025-03-07 criteria provided, single submitter clinical testing The c.646C>T (p.R216C) alteration is located in exon 6 (coding exon 6) of the PDGFB gene. This alteration results from a C to T substitution at nucleotide position 646, causing the arginine (R) at amino acid position 216 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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