ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)

dbSNP: rs876659289
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Total submissions: 3
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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 RCV000660033 SCV000781980 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660033 SCV001588271 pathogenic Neurofibromatosis, type 1 2020-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This nonsense variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 27838393). ClinVar contains an entry for this variant (Variation ID: 547626). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1106*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000660033 SCV002559951 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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