ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) (rs878853894)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231680 SCV000284459 likely pathogenic Neurofibromatosis, type 1 2016-04-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1437 of the NF1 protein (p.Glu1437Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with neurofibromatosis type 1 in the Leiden Open-source Variation Database (PMID: 21520333, 23656349). It has also been observed as a de novo variant in an individual with suspected neurofibromatosis type 1 (Invitae database). 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: "Benign"; Align-GVGD: "Class C0"). In summary, this is a rare variant with uncertain impact on protein function that has only been reported in affected individuals. However, in the absence of additional genetic and/or functional data, this variant has been classified as Likely Pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000231680 SCV000692354 uncertain significance Neurofibromatosis, type 1 2016-04-01 no assertion criteria provided clinical testing

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