ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5374del (p.Cys1792fs)

dbSNP: rs2069378463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290806 SCV001478964 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290806 SCV005766211 pathogenic Neurofibromatosis, type 1 2024-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1771Alafs*2) 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 variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 996402). For these reasons, this variant has been classified as Pathogenic.

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