ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.484C>G (p.Gln162Glu) (rs1555607073)

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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 RCV000565659 SCV000670508 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000553892 SCV000628626 uncertain significance Neurofibromatosis, type 1 2017-05-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 162 of the NF1 protein (p.Gln162Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. 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. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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