ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1998_1999delinsTC (p.Lys666_Ser667delinsAsnPro)

dbSNP: rs1723832698
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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 RCV001227529 SCV001399890 uncertain significance Gastrointestinal stromal tumor 2019-10-28 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PDGFRA-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1998_1999delinsTC, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acids in the PDGFRA protein (p.Lys666_Ser667delinsAsnPro).

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