ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)

dbSNP: rs1135402816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV000497216 SCV000588728 likely pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000497216 SCV002061881 likely pathogenic Neurofibromatosis, type 1 2021-06-04 criteria provided, single submitter clinical testing PS4_Supporting, PP2, PP3, PM2, PM6
Invitae RCV000497216 SCV004539027 likely pathogenic Neurofibromatosis, type 1 2023-07-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: 431592). This missense change has been observed in individual(s) with neurofibromatosis type I (PMID: 28961165; Invitae). 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 529 of the NF1 protein (p.Leu529Phe).

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