ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2178G>A (p.Trp726Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003033781 SCV003325039 uncertain significance Neuroblastoma, susceptibility to, 3 2023-09-01 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 2107722). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change creates a premature translational stop signal (p.Trp726*) in the ALK gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ALK cause disease. This variant is not present in population databases (gnomAD no frequency).

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