ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)

dbSNP: rs1135402865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV000497023 SCV000588789 likely pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001559507 SCV001781745 likely pathogenic not provided 2019-07-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26635368, 23656349)
Labcorp Genetics (formerly Invitae), Labcorp RCV000497023 SCV002271251 likely pathogenic Neurofibromatosis, type 1 2023-07-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1494 of the NF1 protein (p.Gln1494Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 26635368; Invitae). ClinVar contains an entry for this variant (Variation ID: 431647). 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. 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.
Genome-Nilou Lab RCV000497023 SCV002560063 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000497023 SCV000925911 likely pathogenic Neurofibromatosis, type 1 2018-12-18 no assertion criteria provided clinical testing

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