ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5269-1G>C

dbSNP: rs876660141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810978 SCV002050237 likely pathogenic not provided 2021-04-07 criteria provided, single submitter clinical testing The NF1 c. c.5269-1G>C variant (rs876660141), also known as c.5206-1G>C for NM_000267.3, is reported in the literature in an individual affected with neurofibromatosis type I (Bonatti 2017). This variant is also reported in ClinVar (Variation ID: 431653). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice acceptor site of intron 37, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic. References: Bonatti F et al. Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. Int J Mol Sci. 2017 Sep 29;18(10):2071. PMID: 28961165.
Medical Genetics, University of Parma RCV000497213 SCV000588797 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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