ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)

dbSNP: rs1597682751
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009572 SCV001169673 pathogenic Neurofibromatosis, type 1; Tibial pseudarthrosis 2018-11-10 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001381232 SCV001579539 pathogenic Neurofibromatosis, type 1 2023-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818183). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23913538). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln400*) 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).
GeneDx RCV001593181 SCV001824955 pathogenic not provided 2021-12-07 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: 15609345, 31370276, 30561760, 23913538, 31533797)
Genome-Nilou Lab RCV001381232 SCV002561641 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346210 SCV002645197 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-02-27 criteria provided, single submitter clinical testing The p.Q400* pathogenic mutation (also known as c.1198C>T), located in coding exon 11 of the NF1 gene, results from a C to T substitution at nucleotide position 1198. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This mutation was identified in 1/565 unrelated individuals making up a French NF1 cohort (Sabbagh A et al. Hum. Mutat. 2013 Nov;34:1510-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Eurofins-Biomnis RCV001381232 SCV003935062 pathogenic Neurofibromatosis, type 1 2022-09-12 criteria provided, single submitter clinical testing

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