ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2867G>A (p.Gly956Glu)

dbSNP: rs752010861
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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 RCV001912619 SCV002177234 uncertain significance Gastrointestinal stromal tumor 2021-09-03 criteria provided, single submitter clinical testing 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 tolerated. This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (rs752010861, ExAC 0.01%). This sequence change replaces glycine with glutamic acid at codon 956 of the PDGFRA protein (p.Gly956Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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