ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.820_823dup (p.Ile275fs)

dbSNP: rs2066157933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219896 SCV001391859 pathogenic Neurofibromatosis, type 1 2019-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile275Thrfs*17) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001219896 SCV005726589 pathogenic Neurofibromatosis, type 1 2024-11-19 criteria provided, single submitter clinical testing Variant summary: NF1 c.820_823dupCTTA (p.Ile275ThrfsX17) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251186 control chromosomes. To our knowledge, no occurrence of c.820_823dupCTTA in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 948604). Based on the evidence outlined above, the variant was classified as pathogenic.

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