ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu)

dbSNP: rs2069338050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215148 SCV001386876 uncertain significance Neurofibromatosis, type 1 2020-06-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1728 of the NF1 protein (p.Lys1728Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. 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 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002339562 SCV002644150 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-01-10 criteria provided, single submitter clinical testing The p.K1728E variant (also known as c.5182A>G), located in coding exon 36 of the NF1 gene, results from an A to G substitution at nucleotide position 5182. The lysine at codon 1728 is replaced by glutamic acid, an amino acid with 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.
GeneDx RCV002464413 SCV002759072 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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