ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.541A>T (p.Thr181Ser)

dbSNP: rs1722888310
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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 RCV001298400 SCV001487455 uncertain significance Gastrointestinal stromal tumor 2020-03-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 181 of the PDGFRA protein (p.Thr181Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant has not been reported in the literature in individuals 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Baylor Genetics RCV004570687 SCV005055189 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-11-30 criteria provided, single submitter clinical testing

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