ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.8225C>A (p.Pro2742His) (rs878853920)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226411 SCV000284526 uncertain significance Neurofibromatosis, type 1 2015-11-06 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 2742 of the NF1 protein (p.Pro2742His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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