ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3090GGA[4] (p.Glu1032dup)

dbSNP: rs1553906686
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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 RCV000555093 SCV000630644 uncertain significance Gastrointestinal stromal tumor 2017-04-20 criteria provided, single submitter clinical testing In summary, this is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. 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. This sequence change inserts 3 nucleotides in exon 22 of the PDGFRA mRNA (c.3096_3098dupGGA). This leads to the insertion of 1 amino acid residue in the PDGFRA protein (p.Glu1032dup) but otherwise preserves the integrity of the reading frame.

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