ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2509T>C (p.Trp837Arg) (rs587781747)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757559 SCV000885844 likely pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing The NF1 c.2509T>C; p.Trp839Arg variant is published in the medical literature in at least two individuals with a clinical diagnosis of NF1 (Alkindy 2012, van Minkelen 2014). Another variant in the same codon, p.Trp839Gly, is reported in an individual with NF1 (Sabbagh 2013). The variant is listed in the ClinVar database (Variation ID: 141439) and the dbSNP variant database (rs587781747), but is not listed in the general population-based databases (Exome Variant Server, Genome Aggregation Database). The tryptophan at this position is highly conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, this variant is classified as likely pathogenic. References: Alkindy A et al. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics. 2012 Aug 13;6:12. Sabbagh A et al. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat. 2013 Nov;34(11):1510-8. Clin Genet. 2014 van Minkelen et al. A clinical and genetic overview of 18?years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 2014 Apr;85(4):318-27.

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