ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3140C>G (p.Ala1047Gly)

dbSNP: rs1217558142
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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 RCV001308277 SCV001497719 uncertain significance Neuroblastoma, susceptibility to, 3 2020-06-10 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 C55"). 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 alanine with glycine at codon 1047 of the ALK protein (p.Ala1047Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine.

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