ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2909T>A (p.Leu970Gln)

dbSNP: rs1553906621
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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 RCV001318175 SCV001508867 uncertain significance Gastrointestinal stromal tumor 2020-02-08 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PDGFRA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with glutamine at codon 970 of the PDGFRA protein (p.Leu970Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine.
Ambry Genetics RCV004034928 SCV005024210 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-23 criteria provided, single submitter clinical testing The p.L970Q variant (also known as c.2909T>A), located in coding exon 21 of the PDGFRA gene, results from a T to A substitution at nucleotide position 2909. The leucine at codon 970 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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