ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)

dbSNP: rs786203307
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166554 SCV000217356 pathogenic Hereditary cancer-predisposing syndrome 2014-11-11 criteria provided, single submitter clinical testing The p.E19* pathogenic mutation (also known as c.55G>T) located in coding exon 1 of the NF1 gene, results from a G to T substitution at nucleotide position 55. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This mutation has been detected in one individual with a clinical diagnosis of neurofibromatosis type 1 (Fahsold R, Am. J. Hum. Genet. 2000 Mar;66(3):790-818). Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV000554192 SCV000628669 pathogenic Neurofibromatosis, type 1 2023-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu19*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 186896). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000554192 SCV000781859 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001799629 SCV002044149 pathogenic not provided 2021-12-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 10712197, 31768065, 34630515, 26969325)
Genome-Nilou Lab RCV000554192 SCV002561539 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV000554192 SCV002578017 pathogenic Neurofibromatosis, type 1 2022-08-31 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP3,PP5
Molecular Genetics Lab, CHRU Brest RCV003883138 SCV004697686 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis criteria provided, single submitter clinical testing

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