ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4085G>A (p.Arg1362Gln) (rs540108477)

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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 RCV000565984 SCV000666724 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000205985 SCV000259310 uncertain significance Neurofibromatosis, type 1 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1362 of the NF1 protein (p.Arg1362Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NF1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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