ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu)

dbSNP: rs1555614972
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044396 SCV001208192 uncertain significance Neurofibromatosis, type 1 2019-12-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 has been observed in individual(s) with neurofibromatosis (PMID: 16835897). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 1150 of the NF1 protein (p.Ser1150Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.
GeneDx RCV001570393 SCV001794683 likely pathogenic not provided 2021-02-24 criteria provided, single submitter clinical testing Reported in a patient with neurofibromatosis type 1 in the literature (Lee et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22155606, 16835897, 24803665)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.