ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1306G>C (p.Ala436Pro)

gnomAD frequency: 0.00001  dbSNP: rs745772939
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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 RCV000474708 SCV000541849 uncertain significance Neuroblastoma, susceptibility to, 3 2024-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 436 of the ALK protein (p.Ala436Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 404341). 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.
Baylor Genetics RCV000474708 SCV005059679 uncertain significance Neuroblastoma, susceptibility to, 3 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV004772911 SCV005387417 uncertain significance not provided 2023-12-21 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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