ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2233A>G (p.Ser745Gly) (rs786201865)

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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 RCV000164363 SCV000214997 uncertain significance Hereditary cancer-predisposing syndrome 2014-05-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000544130 SCV000628422 uncertain significance Neurofibromatosis, type 1 2017-01-20 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 745 of the NF1 protein (p.Ser745Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 185011). 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. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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