ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.782G>T (p.Arg261Leu)

dbSNP: rs375097381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066399 SCV001231406 uncertain significance Neuroblastoma, susceptibility to, 3 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 261 of the ALK protein (p.Arg261Leu). This variant is present in population databases (rs375097381, gnomAD 0.03%). 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: 860142). 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 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.
Revvity Omics, Revvity RCV003490055 SCV004238561 uncertain significance not provided 2020-05-18 criteria provided, single submitter clinical testing
GeneDx RCV003490055 SCV005334875 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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