ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4833_4836del (p.Ser1611fs)

dbSNP: rs1558603069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706011 SCV000835038 uncertain significance Neuroblastoma, susceptibility to, 3 2019-03-14 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ALK cause disease. This variant has not been reported in the literature in individuals with ALK-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the ALK gene (p.Ser1611Argfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acids of the ALK protein.

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