ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)

dbSNP: rs1555614261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660015 SCV000781956 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000760742 SCV000890635 pathogenic not provided 2021-01-26 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 (Lek et al., 2016); Observed in individuals with neurofibromatosis type 1 referred for genetic testing at GeneDx and in published literature (Anastasaki et al., 2017); This variant is associated with the following publications: (PMID: 28481359, 28955729, 31776437)
Invitae RCV000660015 SCV000957096 pathogenic Neurofibromatosis, type 1 2022-11-01 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: 547612). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 and glioma (PMID: 28955729). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln854*) 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-Nilou Lab RCV000660015 SCV002561794 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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