ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)

dbSNP: rs1567613616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001353305 SCV001578683 pathogenic Neurofibromatosis, type 1 2020-09-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1863 of the NF1 protein (p.Phe1863Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 27838393, 30308447, 22190595, Invitae). In at least one individual the variant was observed to be de novo. It is also known as p.Phe1884Leu in the literature. 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469591 SCV004190794 likely pathogenic Juvenile myelomonocytic leukemia 2022-07-26 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001353305 SCV001548435 likely pathogenic Neurofibromatosis, type 1 2019-01-01 no assertion criteria provided clinical testing

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