ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2725A>T (p.Ile909Phe)

dbSNP: rs1060501509
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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 RCV000470216 SCV000546609 uncertain significance Gastrointestinal stromal tumor 2016-06-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 909 of the PDGFRA protein (p.Ile909Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PDGFRA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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