ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6794A>T (p.Lys2265Met)

dbSNP: rs1060500258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474917 SCV000541995 uncertain significance Neurofibromatosis, type 1 2016-04-07 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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"). 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. This sequence change replaces lysine with methionine at codon 2244 of the NF1 protein (p.Lys2244Met). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and methionine.

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