ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.594C>G (p.Phe198Leu)

dbSNP: rs1018795199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462670 SCV000546568 uncertain significance Gastrointestinal stromal tumor 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 198 of the PDGFRA protein (p.Phe198Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital diaphragmatic hernia (PMID: 25107291). ClinVar contains an entry for this variant (Variation ID: 407375). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.

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