ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4363C>T (p.Arg1455Cys) (rs771420960)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229500 SCV000284461 uncertain significance Neurofibromatosis, type 1 2015-12-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1455 of the NF1 protein (p.Arg1455Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (ExAC 0.006%). This variant has been reported in an individual with Neurofibromatosis Type 1 (PMID: 10336779). 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, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001022364 SCV001184093 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-19 criteria provided, single submitter clinical testing Insufficient evidence
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030576 SCV001193666 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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