ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4760A>C (p.Gln1587Pro)

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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 RCV002944203 SCV003285094 uncertain significance Neuroblastoma, susceptibility to, 3 2022-08-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALK-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1587 of the ALK protein (p.Gln1587Pro).

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