ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2988_2990del (p.Glu997del)

dbSNP: rs781561737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547513 SCV000630635 uncertain significance Gastrointestinal stromal tumor 2023-06-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 459079). This variant is present in population databases (rs781561737, gnomAD 0.01%). This variant, c.2988_2990del, results in the deletion of 1 amino acid(s) of the PDGFRA protein (p.Glu997del), but otherwise preserves the integrity of the reading frame.
PreventionGenetics, part of Exact Sciences RCV003409777 SCV004114529 uncertain significance PDGFRA-related disorder 2022-11-23 criteria provided, single submitter clinical testing The PDGFRA c.2988_2990delGGA variant is predicted to result in an in-frame deletion (p.Glu997del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0096% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-55156584-CGAG-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV004760558 SCV005369706 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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