ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.405T>G (p.Asp135Glu)

dbSNP: rs766197882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021776 SCV001183434 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-07 criteria provided, single submitter clinical testing The p.D135E variant (also known as c.405T>G), located in coding exon 3 of the PDGFRA gene, results from a T to G substitution at nucleotide position 405. The aspartic acid at codon 135 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549544 SCV003196551 uncertain significance Gastrointestinal stromal tumor 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 135 of the PDGFRA protein (p.Asp135Glu). This variant is present in population databases (rs766197882, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. ClinVar contains an entry for this variant (Variation ID: 824550). 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 tolerated. 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.

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