ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1156A>G (p.Ile386Val)

gnomAD frequency: 0.00001  dbSNP: rs779930387
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199057 SCV001370052 uncertain significance Neurofibromatosis, type 1 2019-01-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001199057 SCV002257146 uncertain significance Neurofibromatosis, type 1 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 386 of the NF1 protein (p.Ile386Val). This variant is present in population databases (rs779930387, gnomAD 0.006%). 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: 931989). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NF1 protein function. 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.
Genome-Nilou Lab RCV001199057 SCV002561873 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163502 SCV003861718 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-02-15 criteria provided, single submitter clinical testing The p.I386V variant (also known as c.1156A>G), located in coding exon 10 of the NF1 gene, results from an A to G substitution at nucleotide position 1156. The isoleucine at codon 386 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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