ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3229_3242del (p.Gly1077fs)

dbSNP: rs2110358945
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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 RCV002000716 SCV002267729 uncertain significance Gastrointestinal stromal tumor 2021-06-07 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 results in a frameshift in the PDGFRA gene (p.Gly1077Argfs*38). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 13 amino acid(s) of the PDGFRA protein and extend the protein by 24 additional amino acid residues.

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