ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3111_3114del (p.Ser1038fs)

dbSNP: rs750796687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233239 SCV001405822 uncertain significance Neuroblastoma, susceptibility to, 3 2025-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1038Trpfs*2) 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 (rs750796687, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with uterine cancer (PMID: 29625052). ClinVar contains an entry for this variant (Variation ID: 959821). 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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