ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2857C>G (p.Leu953Val)

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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 RCV002435428 SCV002752760 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-14 criteria provided, single submitter clinical testing The p.L953V variant (also known as c.2857C>G), located in coding exon 20 of the PDGFRA gene, results from a C to G substitution at nucleotide position 2857. The leucine at codon 953 is replaced by valine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003526215 SCV004300579 uncertain significance Gastrointestinal stromal tumor 2023-07-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 953 of the PDGFRA protein (p.Leu953Val). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1796897). 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.

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