ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.44T>C (p.Leu15Pro)

dbSNP: rs1286350038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244945 SCV001418201 uncertain significance Gastrointestinal stromal tumor 2023-04-11 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 969566). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 15 of the PDGFRA protein (p.Leu15Pro).
Ambry Genetics RCV002327595 SCV002636505 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-10 criteria provided, single submitter clinical testing The p.L15P variant (also known as c.44T>C), located in coding exon 1 of the PDGFRA gene, results from a T to C substitution at nucleotide position 44. The leucine at codon 15 is replaced by proline, 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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