ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.94C>A (p.Pro32Thr)

dbSNP: rs936241714
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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 RCV000466810 SCV000546571 uncertain significance Gastrointestinal stromal tumor 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 32 of the PDGFRA protein (p.Pro32Thr). This variant is not present in population databases (gnomAD no frequency). 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: 407378). 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 RCV002374768 SCV002685983 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-24 criteria provided, single submitter clinical testing The p.P32T variant (also known as c.94C>A), located in coding exon 2 of the PDGFRA gene, results from a C to A substitution at nucleotide position 94. The proline at codon 32 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003476041 SCV004200957 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-07-04 criteria provided, single submitter clinical testing

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