ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr)

gnomAD frequency: 0.00001  dbSNP: rs1346616192
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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 RCV000809533 SCV000949686 uncertain significance Gastrointestinal stromal tumor 2023-04-18 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 653719). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1067 of the PDGFRA protein (p.Ile1067Thr).
Fulgent Genetics, Fulgent Genetics RCV002501097 SCV002814981 uncertain significance Idiopathic hypereosinophilic syndrome; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2021-08-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569658 SCV005055154 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2024-02-16 criteria provided, single submitter clinical testing

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