ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.144A>C (p.Arg48Ser)

dbSNP: rs1553902375
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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 RCV000633805 SCV000755078 uncertain significance Gastrointestinal stromal tumor 2017-12-20 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. 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. This variant has not been reported in the literature in individuals with PDGFRA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 48 of the PDGFRA protein (p.Arg48Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine.

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