ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4860_*12del (p.Ter1621LeuextTer?)

dbSNP: rs1456617295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218167 SCV001390039 uncertain significance Neuroblastoma, susceptibility to, 3 2024-11-21 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ALK mRNA. It is expected to extend the length of the ALK protein by 8 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 947158). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV003442779 SCV004168473 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Normal stop codon changed to a leucine codon, leading to the addition of 8 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge

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