ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.370G>A (p.Glu124Lys)

dbSNP: rs1060503153
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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 RCV000461070 SCV000552087 uncertain significance RASopathy 2016-09-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 124 of the RAF1 protein (p.Glu124Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAF1-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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