ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)

dbSNP: rs2070073649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241172 SCV001414171 pathogenic Neurofibromatosis, type 1 2021-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 966483). This premature translational stop signal has been observed in individual(s) with pilocytic astrocytoma (PMID: 2948975). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr2377*) 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).
Baylor Genetics RCV003469457 SCV004190771 pathogenic Juvenile myelomonocytic leukemia 2022-12-27 criteria provided, single submitter clinical testing
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001241172 SCV001482400 pathogenic Neurofibromatosis, type 1 2019-05-31 no assertion criteria provided research

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