ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2981A>G (p.Lys994Arg)

dbSNP: rs2110348511
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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 RCV001979502 SCV002255271 uncertain significance Gastrointestinal stromal tumor 2021-03-26 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: "Tolerated"; PolyPhen-2: "Possibly 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 lysine with arginine at codon 994 of the PDGFRA protein (p.Lys994Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.
Ambry Genetics RCV002441117 SCV002751207 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-14 criteria provided, single submitter clinical testing The p.K994R variant (also known as c.2981A>G), located in coding exon 21 of the PDGFRA gene, results from an A to G substitution at nucleotide position 2981. The lysine at codon 994 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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