ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter)

dbSNP: rs2069375606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268793 SCV001447976 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389840 SCV001591350 pathogenic Neurofibromatosis, type 1 2024-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1742*) 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). This premature translational stop signal has been observed in individuals with neurofibromatosis type 1 (PMID: 11735023, 21354044). ClinVar contains an entry for this variant (Variation ID: 987429). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001389840 SCV002560110 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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