ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7466A>C (p.Lys2489Thr)

dbSNP: rs864622249
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877203 SCV002128602 uncertain significance Neurofibromatosis, type 1 2021-05-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 2468 of the NF1 protein (p.Lys2468Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. This variant has not been reported in the literature in individuals with NF1-related conditions. 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. 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.

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