ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6983G>A (p.Arg2328His) (rs864622065)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206636 SCV000259226 uncertain significance Neurofibromatosis, type 1 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 2328 of the NF1 protein (p.Arg2328His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 219389). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000218254 SCV000273370 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-05 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),In silico models in agreement (benign)
PreventionGenetics,PreventionGenetics RCV000679405 SCV000806306 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing

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