ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter)

dbSNP: rs2069793099
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051294 SCV001215440 pathogenic Neurofibromatosis, type 1 2023-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 847696). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 31370276). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2319*) 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).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001051294 SCV001479028 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001051294 SCV002560227 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374906 SCV002668273 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-30 criteria provided, single submitter clinical testing The p.Q2319* variant (also known as c.6955C>T), located in coding exon 46 of the NF1 gene, results from a C to T substitution at nucleotide position 6955. This changes the amino acid from a glutamine to a stop codon within coding exon 46. This alteration has been identified in an individual meeting clinical diagnosis of Neurofibromatosis Type 1 (Giugliano T et al. Genes (Basel), 2019 07;10:). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Baylor Genetics RCV003467762 SCV004190761 pathogenic Juvenile myelomonocytic leukemia 2023-02-26 criteria provided, single submitter clinical testing

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