ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6166A>C (p.Lys2056Gln)

dbSNP: rs1555534667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317166 SCV000666834 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-05 criteria provided, single submitter clinical testing The p.K2035Q variant (also known as c.6103A>C), located in coding exon 41 of the NF1 gene, results from an A to C substitution at nucleotide position 6103. The lysine at codon 2035 is replaced by glutamine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005056210 SCV005718062 uncertain significance Neurofibromatosis, type 1 2024-06-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2035 of the NF1 protein (p.Lys2035Gln). 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: 481991). 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.

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