ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.-272G>A

dbSNP: rs1911510393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311484 SCV001501664 likely pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV001378359 SCV001575911 likely pathogenic Neurofibromatosis, type 1 2023-09-23 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the NF1 gene. It does not change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 27322474). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1013130). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001311484 SCV002013669 uncertain significance not provided 2020-09-22 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; No data available from ethnically-matched control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 27322474)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001311484 SCV004563650 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing The NF1 c.-272G>A variant (rs1911510393) is reported in the literature in two individuals affected with NF1 and appeared to segregate with NF1 features in both families (Evans 2016). This variant is also reported in ClinVar (Variation ID: 1013130) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant is located in the 5’ untranslated region and creates a novel protein translation start codon that if utilized may cause a frameshift. Due to limited information, the clinical significance of this variant is uncertain at this time. References: Evans DG et al. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. EBioMedicine. 2016 May;7:212-20. PMID: 27322474.

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