ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)

dbSNP: rs1555607073
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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 RCV002316596 SCV000666640 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-03-05 criteria provided, single submitter clinical testing The p.Q162* pathogenic mutation (also known as c.484C>T), located in coding exon 5 of the NF1 gene, results from a C to T substitution at nucleotide position 484. This changes the amino acid from a glutamine to a stop codon within coding exon 5. This alteration has been reported in two siblings with neurofibromatosis type 1 (NF1) and bilateral optic pathway glioma (Kebudi R et al. Pediatr Blood Cancer, 2008 Mar;50:713-5), and has been detected in additional individuals from NF1 cohorts (Melloni G et al. Cancers (Basel). 2019 11;11(12). 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659962 SCV000781871 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659962 SCV000826250 pathogenic Neurofibromatosis, type 1 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln162*) 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 premature translational stop signal has been observed in individuals with neurofibromatosis type 1 (PMID: 17514731). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 481882). For these reasons, this variant has been classified as Pathogenic.
Department of Pediatrics, Memorial Sloan Kettering Cancer Center RCV000659962 SCV001478136 pathogenic Neurofibromatosis, type 1 2020-12-15 criteria provided, single submitter research
GeneDx RCV001837995 SCV002098169 pathogenic not provided 2023-06-20 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34308366, 25525159, 31766501, 21278392, 17514731, 28873162, Kiraz_2023, 10712197, 23913538, 35024939)
Genome-Nilou Lab RCV000659962 SCV002561576 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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