ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3362A>G (p.Glu1121Gly) (rs757222815)

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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 RCV000216796 SCV000274340 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000470964 SCV000542052 uncertain significance Neurofibromatosis, type 1 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1121 of the NF1 protein (p.Glu1121Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs757222815, ExAC 0.05%). This variant has been reported in an individual referred for NF1 genetic testing (PMID: 24789688). ClinVar contains an entry for this variant (Variation ID: 230699). 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 rare missense change with uncertain impact on protein function. It has been reported in both the population and a possibly affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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