ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs)

dbSNP: rs1135402819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497191 SCV002231856 pathogenic Neurofibromatosis, type 1 2023-04-07 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: 431595). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 24789688). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp556Alafs*11) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000497191 SCV004102640 pathogenic Neurofibromatosis, type 1 2023-11-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497191 SCV000588731 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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