ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2497G>T (p.Gly833Ter)

gnomAD frequency: 0.00003  dbSNP: rs74360487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693126 SCV000820982 uncertain significance Neuroblastoma, susceptibility to, 3 2023-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly833*) 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). 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: 571876). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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