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 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 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALK-related conditions.

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