ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4812C>A (p.Tyr1604Ter)

dbSNP: rs753750497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474334 SCV000541826 uncertain significance Neuroblastoma, susceptibility to, 3 2020-12-03 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with ALK-related disease. ClinVar contains an entry for this variant (Variation ID: 404319). This variant is present in population databases (rs753750497, ExAC 0.001%). This sequence change results in a premature translational stop signal in the ALK gene (p.Tyr1604*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acids of the ALK protein.

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