ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1622C>A (p.Ala541Glu)

dbSNP: rs1553409296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560743 SCV000648623 uncertain significance Neuroblastoma, susceptibility to, 3 2017-05-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 541 of the ALK protein (p.Ala541Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ALK-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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