ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1672C>T (p.Arg558Cys)

gnomAD frequency: 0.00001  dbSNP: rs765680542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697347 SCV000825950 uncertain significance Gastrointestinal stromal tumor 2022-08-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 575193). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 558 of the PDGFRA protein (p.Arg558Cys). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002397429 SCV002706156 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-09 criteria provided, single submitter clinical testing The c.1672C>T (p.R558C) alteration is located in exon 12 (coding exon 11) of the PDGFRA gene. This alteration results from a C to T substitution at nucleotide position 1672, causing the arginine (R) at amino acid position 558 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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