ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.544G>A (p.Glu182Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002349651 SCV002649098 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-13 criteria provided, single submitter clinical testing The p.E182K variant (also known as c.544G>A), located in coding exon 1 of the ALK gene, results from a G to A substitution at nucleotide position 544. The glutamic acid at codon 182 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096744 SCV003293553 uncertain significance Neuroblastoma, susceptibility to, 3 2022-04-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 182 of the ALK protein (p.Glu182Lys).

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