ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.355G>A (p.Glu119Lys)

dbSNP: rs1572503350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819267 SCV000959917 uncertain significance Neuroblastoma, susceptibility to, 3 2023-08-24 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 661774). 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 119 of the ALK protein (p.Glu119Lys).
GeneDx RCV003235411 SCV003933605 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004029003 SCV005021960 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-09 criteria provided, single submitter clinical testing The p.E119K variant (also known as c.355G>A), located in coding exon 1 of the ALK gene, results from a G to A substitution at nucleotide position 355. The glutamic acid at codon 119 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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