ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.527_528del (p.Gln176fs)

dbSNP: rs2110252645
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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 RCV001956569 SCV002239279 uncertain significance Gastrointestinal stromal tumor 2021-02-15 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. 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 sequence change creates a premature translational stop signal (p.Gln176Argfs*3) 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.

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