ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu)

dbSNP: rs1381254564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213909 SCV001385565 uncertain significance Neurofibromatosis, type 1 2022-08-29 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 943671). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2329 of the NF1 protein (p.Ile2329Leu). 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.
GeneDx RCV002282487 SCV002571175 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)
Ambry Genetics RCV002365959 SCV002665323 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-20 criteria provided, single submitter clinical testing The p.I2329L variant (also known as c.6985A>C), located in coding exon 46 of the NF1 gene, results from an A to C substitution at nucleotide position 6985. The isoleucine at codon 2329 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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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