ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.19G>T (p.Ala7Ser)

dbSNP: rs1467619698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223496 SCV001395648 uncertain significance Gastrointestinal stromal tumor 2023-08-28 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 951547). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 7 of the PDGFRA protein (p.Ala7Ser).
GeneDx RCV004768938 SCV005377146 uncertain significance not provided 2023-11-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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