ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7465A>T (p.Lys2489Ter)

dbSNP: rs1555536338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068591 SCV001233713 pathogenic Neurofibromatosis, type 1 2019-01-25 criteria provided, single submitter clinical testing Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys2468*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002469340 SCV002765517 pathogenic not provided 2022-12-14 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 (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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