ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2110G>A (p.Ala704Thr)

gnomAD frequency: 0.00001  dbSNP: rs34829159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697086 SCV000825676 uncertain significance Neuroblastoma, susceptibility to, 3 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 704 of the ALK protein (p.Ala704Thr). This variant is present in population databases (rs34829159, gnomAD 0.006%). 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: 575004). 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.
GeneDx RCV001771972 SCV002002666 uncertain significance not provided 2021-03-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV003424290 SCV004109798 uncertain significance ALK-related condition 2022-09-06 criteria provided, single submitter clinical testing The ALK c.2110G>A variant is predicted to result in the amino acid substitution p.Ala704Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-29474065-C-T) and is listed in ClinVar as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/575004/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV000697086 SCV004190513 uncertain significance Neuroblastoma, susceptibility to, 3 2023-06-16 criteria provided, single submitter clinical testing

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