ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5459T>C (p.Ile1820Thr)

dbSNP: rs1597832129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802831 SCV000942676 uncertain significance Neurofibromatosis, type 1 2024-12-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1799 of the NF1 protein (p.Ile1799Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 648166). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt NF1 protein function with a positive predictive value of 95%. 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 RCV002319578 SCV001185982 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-17 criteria provided, single submitter clinical testing The p.I1799T variant (also known as c.5396T>C), located in coding exon 37 of the NF1 gene, results from a T to C substitution at nucleotide position 5396. The isoleucine at codon 1799 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Genome-Nilou Lab RCV000802831 SCV002560550 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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