ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1018C>T (p.Arg340Trp)

gnomAD frequency: 0.00003  dbSNP: rs376626935
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473903 SCV000546575 uncertain significance Gastrointestinal stromal tumor 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 340 of the PDGFRA protein (p.Arg340Trp). This variant is present in population databases (rs376626935, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. ClinVar contains an entry for this variant (Variation ID: 407382). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDGFRA protein function. 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 RCV004022635 SCV003644235 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-12 criteria provided, single submitter clinical testing The c.1018C>T (p.R340W) alteration is located in exon 7 (coding exon 6) of the PDGFRA gene. This alteration results from a C to T substitution at nucleotide position 1018, causing the arginine (R) at amino acid position 340 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003476043 SCV004200959 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV004719827 SCV005326019 uncertain significance not provided 2023-10-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 36825100)

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