ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1298T>C (p.Val433Ala)

dbSNP: rs1723456601
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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 RCV001246477 SCV001419835 uncertain significance Gastrointestinal stromal tumor 2023-05-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 433 of the PDGFRA protein (p.Val433Ala). 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: 970829). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Baylor Genetics RCV003473831 SCV004200928 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034865 SCV005024331 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-20 criteria provided, single submitter clinical testing The p.V433A variant (also known as c.1298T>C), located in coding exon 8 of the PDGFRA gene, results from a T to C substitution at nucleotide position 1298. The valine at codon 433 is replaced by alanine, an amino acid with 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.

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