ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.404G>A (p.Arg135Gln) (rs1060500244)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566403 SCV000666784 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000456876 SCV000541967 uncertain significance Neurofibromatosis, type 1 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 135 of the NF1 protein (p.Arg135Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. 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: 404419). 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: "Possibly Damaging"; 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.
PreventionGenetics RCV000679388 SCV000806279 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing

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