ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)

dbSNP: rs1135402864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001578268 SCV001805823 likely pathogenic not provided 2022-10-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23656349, 31717729, 32697994, 25541118, 22807134, 34694046, 29914388)
Labcorp Genetics (formerly Invitae), Labcorp RCV001866080 SCV002162540 pathogenic Neurofibromatosis, type 1 2025-01-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1490 of the NF1 protein (p.Leu1490Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 25541118, 26635368, 29914388, 31717729). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1209570). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt NF1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001866080 SCV002560059 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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