ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1541del (p.Gln514fs)

dbSNP: rs1555612815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520958 SCV000617575 pathogenic not provided 2023-02-28 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23913538, 30014477, 30530636)
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659992 SCV000781915 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000659992 SCV002561674 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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