ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3835A>C (p.Arg1279=)

dbSNP: rs1573102711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821302 SCV000962056 uncertain significance Neuroblastoma, susceptibility to, 3 2018-11-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ALK-related disease. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 1279 of the ALK mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALK protein.

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