ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)

dbSNP: rs137854555
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Total submissions: 5
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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 RCV000660063 SCV000782031 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001007974 SCV001167704 pathogenic not provided 2023-09-18 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); This variant is associated with the following publications: (PMID: 25525159, 9180088, 9042399, 10360836, 10421056, 12872266, 10712197)
Invitae RCV000660063 SCV001587499 pathogenic Neurofibromatosis, type 1 2021-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with neurofibromatosis type 1 and with juvenile myelomonocytic leukemia (PMID: 10712197, 9639526). ClinVar contains an entry for this variant (Variation ID: 350). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1538*) 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 RCV000660063 SCV002560075 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
OMIM RCV000000378 SCV000020522 pathogenic Juvenile myelomonocytic leukemia 1997-06-12 no assertion criteria provided literature only

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