ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6385A>G (p.Ile2129Val)

dbSNP: rs2151555054
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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 RCV001966680 SCV002254138 uncertain significance Neurofibromatosis, type 1 2022-11-28 criteria provided, single submitter clinical testing 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: 1471238). 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) has been performed at Invitae 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. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2108 of the NF1 protein (p.Ile2108Val). This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002361326 SCV002660629 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-07-22 criteria provided, single submitter clinical testing The p.I2108V variant (also known as c.6322A>G), located in coding exon 41 of the NF1 gene, results from an A to G substitution at nucleotide position 6322. The isoleucine at codon 2108 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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