ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2239A>G (p.Met747Val) (rs1471232737)

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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 RCV000563902 SCV000670442 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000802133 SCV000941950 uncertain significance Neurofibromatosis, type 1 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 747 of the NF1 protein (p.Met747Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. 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: 484030). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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