ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2218G>T (p.Glu740Ter)

dbSNP: rs1135402827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000497183 SCV004538953 pathogenic Neurofibromatosis, type 1 2023-05-25 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: 431604). This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 28961165). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu740*) 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).
Medical Genetics, University of Parma RCV000497183 SCV000588742 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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