ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) (rs864309584)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761080 SCV000890995 uncertain significance Ganglioneuroblastoma 2016-07-22 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000420164 SCV000503785 pathogenic Neuroblastoma 2014-10-02 no assertion criteria provided literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202983 SCV000257950 uncertain significance not specified 2015-06-18 criteria provided, single submitter clinical testing
Invitae RCV000647422 SCV000769218 uncertain significance Neuroblastoma 3 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1091 of the ALK protein (p.Asp1091Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALK-related disease. ClinVar contains an entry for this variant (Variation ID: 218628). Experimental studies have shown that this missense change does not lead to a gain-of-function of the ALK protein (PMID: 23104988). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.