ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1701_1702delinsGC (p.Asp568His)

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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 RCV002890994 SCV003247672 uncertain significance Gastrointestinal stromal tumor 2021-12-12 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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 affected with PDGFRA-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 568 of the PDGFRA protein (p.Asp568His).

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