ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1570G>T (p.Glu524Ter)

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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 RCV003525521 SCV004252172 uncertain significance Gastrointestinal stromal tumor 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu524*) in the PDGFRA gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PDGFRA cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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