ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn)

gnomAD frequency: 0.00001  dbSNP: rs55782189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694794 SCV000823254 uncertain significance Neuroblastoma, susceptibility to, 3 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1416 of the ALK protein (p.Lys1416Asn). This variant is present in population databases (rs55782189, gnomAD 0.06%). This missense change has been observed in individual(s) with glioma (PMID: 33486679). ClinVar contains an entry for this variant (Variation ID: 573190). 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.
GeneDx RCV001797129 SCV002038950 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: Lai2018[Abstract], 27535533)

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