ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6299T>C (p.Leu2100Pro)

dbSNP: rs1555534708
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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 RCV001933807 SCV002202145 uncertain significance Neurofibromatosis, type 1 2021-01-30 criteria provided, single submitter clinical testing 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 expected to disrupt NF1 protein function. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 2079 of the NF1 protein (p.Leu2079Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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