ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2003G>A (p.Gly668Asp)

dbSNP: rs1723871084
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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 RCV001043867 SCV001207634 uncertain significance Gastrointestinal stromal tumor 2019-03-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 replaces glycine with aspartic acid at codon 668 of the PDGFRA protein (p.Gly668Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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