ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.380C>G (p.Ala127Gly)

dbSNP: rs759705682
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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 RCV000227624 SCV000289209 uncertain significance Gastrointestinal stromal tumor 2016-02-15 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PDGFRA-related disease. This sequence change replaces alanine with glycine at codon 127 of the PDGFRA protein (p.Ala127Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine.
Ambry Genetics RCV002354661 SCV002620191 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-29 criteria provided, single submitter clinical testing The p.A127G variant (also known as c.380C>G), located in coding exon 3 of the PDGFRA gene, results from a C to G substitution at nucleotide position 380. The alanine at codon 127 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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