ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1303T>C (p.Cys435Arg)

dbSNP: rs1723456987
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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 RCV001352018 SCV001546535 uncertain significance Gastrointestinal stromal tumor 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 435 of the PDGFRA protein (p.Cys435Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PDGFRA-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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