ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2207T>C (p.Ile736Thr)

dbSNP: rs2148188895
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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 RCV001373882 SCV001570614 uncertain significance Neuroblastoma, susceptibility to, 3 2023-01-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1063979). 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 C65"). 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 has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 736 of the ALK protein (p.Ile736Thr). This variant is not present in population databases (gnomAD no frequency).

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