ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1399G>T (p.Glu467Ter)

dbSNP: rs2148258207
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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 RCV002016135 SCV002305701 uncertain significance Neuroblastoma, susceptibility to, 3 2020-12-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. This variant has not been reported in the literature in individuals with ALK-related conditions. This sequence change creates a premature translational stop signal (p.Glu467*) 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.

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