ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)

dbSNP: rs2070298589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069083 SCV001234229 pathogenic Neurofibromatosis, type 1 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe2629Serfs*9) 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 clinical features of neurofibromatosis type 1 (PMID: 10862084, 18546366, 26969325). This variant is also known as c.7881_7882delTG. ClinVar contains an entry for this variant (Variation ID: 862375). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001069083 SCV001479255 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001069083 SCV002560595 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV003442198 SCV004169762 pathogenic not provided 2023-05-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 10862084, 35885913)

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