ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5106A>T (p.Gln1702His) (rs864622372)

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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 RCV000214922 SCV000278373 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-16 criteria provided, single submitter clinical testing
Invitae RCV000685859 SCV000813359 uncertain significance Neurofibromatosis, type 1 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1702 of the NF1 protein (p.Gln1702His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 233907). 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: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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