ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)

dbSNP: rs1060500363
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469252 SCV000542186 pathogenic Neurofibromatosis, type 1 2023-03-29 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 29685074). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln27*) 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). ClinVar contains an entry for this variant (Variation ID: 404581). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000585221 SCV000692901 likely pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000469252 SCV002561548 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418351 SCV002681702 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-30 criteria provided, single submitter clinical testing The p.Q27* pathogenic mutation (also known as c.79C>T), located in coding exon 2 of the NF1 gene, results from a C to T substitution at nucleotide position 79. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This variant has been observed in individuals with clinical features of neurofibromatosis type 1(Rosset C et al. Expert Rev Mol Diagn, 2018 06;18:577-586) (Demir Gündoan B et al. Turk J Med Sci, 2021 Aug). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 RCV003470400 SCV004190808 pathogenic Juvenile myelomonocytic leukemia 2022-05-04 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000469252 SCV000588692 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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