ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4581del (p.His1528fs)

dbSNP: rs1597748682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823648 SCV000964515 pathogenic Neurofibromatosis, type 1 2018-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1507Ilefs*46) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004761836 SCV005371768 pathogenic not provided 2024-04-03 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30014477)

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