ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1651C>T (p.Arg551Ter)

gnomAD frequency: 0.00001  dbSNP: rs1172956542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065371 SCV001230327 uncertain significance Neuroblastoma, susceptibility to, 3 2024-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg551*) 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 present in population databases (no rsID available, gnomAD 0.006%). 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: 859296). 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.
GeneDx RCV005056848 SCV005690549 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not an established mechanism of disease

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