ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1045G>A (p.Val349Ile)

gnomAD frequency: 0.00004  dbSNP: rs370848188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795099 SCV000934541 uncertain significance Neuroblastoma, susceptibility to, 3 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 349 of the ALK protein (p.Val349Ile). This variant is present in population databases (rs370848188, gnomAD 0.02%). 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: 641781). 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.
GeneDx RCV002281132 SCV002569711 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing 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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