ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)

dbSNP: rs1555535027
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Total submissions: 4
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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 RCV000660104 SCV000782086 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000660104 SCV001478940 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000660104 SCV002560213 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660104 SCV004631026 pathogenic Neurofibromatosis, type 1 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2257Trpfs*6) 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 individual(s) with neurofibromatosis, type 1 (PMID: 31766501). ClinVar contains an entry for this variant (Variation ID: 547683). For these reasons, this variant has been classified as Pathogenic.

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