ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe)

dbSNP: rs876658130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660083 SCV000782059 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001564704 SCV001787904 uncertain significance not provided 2021-01-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with clinically diagnosed or suspected neurofibromatosis type 1 (Valero et al., 2011; Duat Rodriguez et al., 2015); This variant is associated with the following publications: (PMID: 25541118, 21354044)
Genome-Nilou Lab RCV000660083 SCV002560897 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Invitae RCV000660083 SCV004296781 uncertain significance Neurofibromatosis, type 1 2023-09-29 criteria provided, single submitter clinical testing 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 expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 547665). This missense change has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 25541118). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1871 of the NF1 protein (p.Leu1871Phe).

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