ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4018C>T (p.Leu1340Phe) (rs876658268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222211 SCV000273291 uncertain significance Hereditary cancer-predisposing syndrome 2015-01-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000681284 SCV000808746 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is denoted NF1 c.4018C>T at the cDNA level, p.Leu1340Phe (L1340F) at the protein level, and results in the change of a Leucine to a Phenylalanine (CTT>TTT). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. NF1 Leu1340Phe was not observed in large population cohorts (Lek 2016). This variant is located in the GTPase activating protein domain (Thomas 2012, Luo 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether NF1 Leu1340Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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