ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)

dbSNP: rs137854563
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000000398 SCV000781892 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476903 SCV002774288 likely pathogenic not provided 2021-07-23 criteria provided, single submitter clinical testing This variant has been reported in individuals and families affected with Neurofibromatosis type 1 including spinal tumors and breast cancer in the published literature (PMIDs: 10712197 (2000), 12566521 (2003), 19221814 (2009), and 30530636 (2019)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is disease causing and damaging. Based on the available information, the variant is predicted to be likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496218 SCV002809903 likely pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000000398 SCV003441763 pathogenic Neurofibromatosis, type 1 2023-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 368). This missense change has been observed in individual(s) with a diagnosis or clinical features of neurofibromatosis type 1 (PMID: 10712197, 12566521, 19221814, 30530636). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 357 of the NF1 protein (p.Leu357Pro).
OMIM RCV000000398 SCV000020542 pathogenic Neurofibromatosis, type 1 2000-03-01 no assertion criteria provided literature only
OMIM RCV000000399 SCV000020543 pathogenic Neurofibromatosis, familial spinal 2000-03-01 no assertion criteria provided literature only

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