ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.781C>T (p.Arg261Ter)

dbSNP: rs972790555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550182 SCV000648774 uncertain significance Neuroblastoma, susceptibility to, 3 2023-07-30 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. ClinVar contains an entry for this variant (Variation ID: 470900). This variant has not been reported in the literature in individuals affected with ALK-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg261*) 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.
PreventionGenetics, part of Exact Sciences RCV003409805 SCV004115841 uncertain significance ALK-related condition 2022-09-29 criteria provided, single submitter clinical testing The ALK c.781C>T variant is predicted to result in premature protein termination (p.Arg261*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-29940450-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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