ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3077A>G (p.Asp1026Gly)

gnomAD frequency: 0.00002  dbSNP: rs1418641601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542345 SCV000630643 uncertain significance Gastrointestinal stromal tumor 2023-12-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1026 of the PDGFRA protein (p.Asp1026Gly). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 459087). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDGFRA protein function. 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.
Ambry Genetics RCV002319528 SCV002608642 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-22 criteria provided, single submitter clinical testing The c.3077A>G (p.D1026G) alteration is located in exon 22 (coding exon 21) of the PDGFRA gene. This alteration results from a A to G substitution at nucleotide position 3077, causing the aspartic acid (D) at amino acid position 1026 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003225081 SCV003921637 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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