ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1642A>G (p.Ile548Val)

dbSNP: rs1060501500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557487 SCV000630567 uncertain significance Gastrointestinal stromal tumor 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 548 of the PDGFRA protein (p.Ile548Val). This variant is present in population databases (no rsID available, 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: 459014). 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 with a negative predictive value of 80%. 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 RCV001012542 SCV001173009 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-09 criteria provided, single submitter clinical testing The p.I548V variant (also known as c.1642A>G), located in coding exon 10 of the PDGFRA gene, results from an A to G substitution at nucleotide position 1642. The isoleucine at codon 548 is replaced by valine, 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.
PreventionGenetics, part of Exact Sciences RCV003403265 SCV004105920 uncertain significance PDGFRA-related disorder 2023-05-12 criteria provided, single submitter clinical testing The PDGFRA c.1642A>G variant is predicted to result in the amino acid substitution p.Ile548Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-55140781-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV003476230 SCV004200941 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-07-26 criteria provided, single submitter clinical testing

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