ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)

gnomAD frequency: 0.00001  dbSNP: rs199474730
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525652 SCV000628435 pathogenic Neurofibromatosis, type 1 2024-08-21 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 784 of the NF1 protein (p.Trp784Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurofibromatosis type I (PMID: 11857752, 12807981, 15146469, 24789688). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68318). 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 Diagnostics Laboratory, The Hospital for Sick Children RCV000525652 SCV001479021 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000059170 SCV002007749 likely pathogenic not provided 2021-07-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25486365, 31776437, 27535533, 15146469, 12807981, 24789688, 18484666, 18546366, 11857752, 24803665)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000059170 SCV002051643 pathogenic not provided 2021-03-16 criteria provided, single submitter clinical testing PS4, PP2, PP3, PM1, PM2, PM5, PM6
Genome-Nilou Lab RCV000525652 SCV002561757 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
NHS Central & South Genomic Laboratory Hub RCV000525652 SCV005393919 pathogenic Neurofibromatosis, type 1 2024-11-11 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059170 SCV000090699 not provided not provided no assertion provided not provided

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