ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3062G>C (p.Cys1021Ser)

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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 RCV002296013 SCV002596412 uncertain significance Neuroblastoma, susceptibility to, 3 2022-08-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALK-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is present in population databases (rs755251074, gnomAD 0.006%). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 1021 of the ALK protein (p.Cys1021Ser).

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