ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1399dup (p.Thr467fs)

dbSNP: rs778963145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008105 SCV001167855 pathogenic not provided 2020-12-01 criteria provided, single submitter clinical testing Frameshift 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 a significant frequency in large population cohorts (Lek 2016); Identified in patients with a personal or family history consistent with pathogenic variants in this gene referred for genetic testing at GeneDx and in published literature (Ars 2003, Pros 2008, Giugliano 2019); This variant is associated with the following publications: (PMID: 12807981, 31370276, 31201679, 18546366)
Labcorp Genetics (formerly Invitae), Labcorp RCV001381233 SCV001579541 pathogenic Neurofibromatosis, type 1 2024-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr467Asnfs*3) 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 present in population databases (rs778963145, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 12807981, 31201679, 31370276). ClinVar contains an entry for this variant (Variation ID: 817038). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001381233 SCV002561663 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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