ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.454G>C (p.Glu152Gln)

dbSNP: rs1060500233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470706 SCV000541903 uncertain significance Neuroblastoma, susceptibility to, 3 2023-07-06 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. 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. ClinVar contains an entry for this variant (Variation ID: 404388). 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 glutamine, which is neutral and polar, at codon 152 of the ALK protein (p.Glu152Gln).
Ambry Genetics RCV005348122 SCV006010248 uncertain significance Hereditary cancer-predisposing syndrome 2025-02-16 criteria provided, single submitter clinical testing The p.E152Q variant (also known as c.454G>C), located in coding exon 1 of the ALK gene, results from a G to C substitution at nucleotide position 454. The glutamic acid at codon 152 is replaced by glutamine, an amino acid with highly 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 variant remains unclear.

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