ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2617C>G (p.Arg873Gly) (rs199474739)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693877 SCV000822299 uncertain significance Neurofibromatosis, type 1 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 873 of the NF1 protein (p.Arg873Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with neurofibromatosis type 1 (NF1) (PMID: 23913538). Experimental studies have shown that this variant leads to altered mRNA splicing (PMID: 23913538). 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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