ClinVar Miner

Submissions for variant NC_000004.11:g.(?_55141008)_(55164412_?)dup

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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 RCV000458010 SCV000563867 uncertain significance Gastrointestinal stromal tumor 2016-11-14 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 12-23. The 5' boundary is likely confined to intron 11. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a PDGFRA-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on PDGFRA protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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