ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)

dbSNP: rs1131691072
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492460 SCV000581244 pathogenic Hereditary cancer-predisposing syndrome 2014-04-21 criteria provided, single submitter clinical testing The p.Q1399*pathogenic mutation (also known as c.4195C>T) located in coding exon 32 of the NF1 gene, results from a C to T substitution at nucleotide position 4195. This changes the amino acid from aglutamine to a stop codon within coding exon 32. 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).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507218 SCV000604518 pathogenic not specified 2016-12-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290878 SCV001479118 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001290878 SCV002560027 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001290878 SCV002767861 pathogenic Neurofibromatosis, type 1 2020-10-19 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Neurofibromatosis-related conditions. (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Many other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (ClinVar). (SP) 0802 - This variant has moderate previous evidence of pathogenicity in unrelated individuals. It has been reported in multiple patients with neurofibromatosis (ClinVar, PMID: 30308447; PMID: 31776437). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Fulgent Genetics, Fulgent Genetics RCV002496890 SCV002801685 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-02-16 criteria provided, single submitter clinical testing

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