ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1414C>G (p.Arg472Gly)

gnomAD frequency: 0.00006  dbSNP: rs749263944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246129 SCV001419468 uncertain significance Neuroblastoma, susceptibility to, 3 2023-08-03 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 970544). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 472 of the ALK protein (p.Arg472Gly).

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