ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.464T>G (p.Val155Gly)

dbSNP: rs1206463887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025515 SCV002293502 uncertain significance Neuroblastoma, susceptibility to, 3 2021-01-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALK-related conditions. 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"). 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. This sequence change replaces valine with glycine at codon 155 of the ALK protein (p.Val155Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine.

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