ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys)

dbSNP: rs142636150
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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 RCV002033749 SCV002283188 uncertain significance Neurofibromatosis, type 1 2024-09-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 2812 of the NF1 protein (p.Asn2812Lys). 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: 1497691). 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 not expected to disrupt NF1 protein function with a negative predictive value of 95%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003170497 SCV003861635 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-13 criteria provided, single submitter clinical testing The p.N2812K variant (also known as c.8436T>G), located in coding exon 57 of the NF1 gene, results from a T to G substitution at nucleotide position 8436. The asparagine at codon 2812 is replaced by lysine, an amino acid with 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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