ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1700_1701inv (p.Pro567Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550761 SCV000630572 uncertain significance Gastrointestinal stromal tumor 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 567 of the PDGFRA protein (p.Pro567Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 459018). 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 disruptive. 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 RCV002413470 SCV002715495 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-29 criteria provided, single submitter clinical testing The c.1700_1701delCAinsTG variant (also known as p.P567L), located in coding exon 11 of the PDGFRA gene, results from an in-frame deletion of CA and insertion of TG at nucleotide positions 1700 to 1701. This results in the substitution of the proline residue for a leucine residue at codon 567, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ITMI RCV000121782 SCV000085980 not provided not specified 2013-09-19 no assertion provided reference population

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