ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4701G>C (p.Lys1567Asn)

gnomAD frequency: 0.00001  dbSNP: rs1413940049
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041313 SCV001204919 uncertain significance Neuroblastoma, susceptibility to, 3 2019-12-20 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ALK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 1567 of the ALK protein (p.Lys1567Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.

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