ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter)

dbSNP: rs754023358
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Total submissions: 4
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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 RCV000660060 SCV000782028 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001007973 SCV001167703 pathogenic not provided 2019-03-27 criteria provided, single submitter clinical testing The Y1524X nonsense variant has been reported previously in association with neurofibromatosis type 1 (Sabbagh et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We interpret this variant as pathogenic.
Invitae RCV000660060 SCV001201505 pathogenic Neurofibromatosis, type 1 2022-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1524*) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 547647). This premature translational stop signal has been observed in individuals with neurofibromatosis type 1 (PMID: 23913538).
Genome-Nilou Lab RCV000660060 SCV002560072 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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