ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) (rs137854564)

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
GeneDx RCV000680822 SCV000808269 likely pathogenic not provided 2018-03-09 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NF1 gene. The L1243P variant has been reported previously in an individual with a clinical diagnosis of NF1 and childhood-onset complex partial seizures (Ferner et al., 2004). The L1243P variant is not observed in large population cohorts (Lek et al., 2016). The L1243P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This variant is located in the GTPase activating protein domain, a critical functional domain (Thomas et. al., 2012). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
OMIM RCV000000402 SCV000020546 pathogenic Neurofibromatosis, type 1 2004-11-01 no assertion criteria provided literature only

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.