ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.475G>A (p.Gly159Arg)

gnomAD frequency: 0.00001  dbSNP: rs367875912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223444 SCV001395594 uncertain significance Neuroblastoma, susceptibility to, 3 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 159 of the ALK protein (p.Gly159Arg). This variant is present in population databases (rs367875912, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 951508). 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. 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.
Baylor Genetics RCV001223444 SCV004190447 uncertain significance Neuroblastoma, susceptibility to, 3 2023-06-23 criteria provided, single submitter clinical testing

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