ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) (rs1881421)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000119980 SCV000310079 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000616049 SCV000429914 benign Neuroblastoma 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000119980 SCV000518937 benign not specified 2016-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000119980 SCV000538270 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Ambry Genetics RCV000562954 SCV000664946 benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Integrated Genetics/Laboratory Corporation of America RCV000588550 SCV000698298 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.4587C>G variant affects a non-conserved nucleotide, resulting in amino acid change from Asp to Glu. 4/4 in-silico tools predict benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 55828/121360 control chromosomes (14197 homozygotes) at a frequency of 0.4600198, which is about 1104047 times of the maximal expected frequency of a pathogenic allele (0.0000004), suggesting this variant is benign. Taken together, this variant was classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616049 SCV000744249 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000616049 SCV000745622 benign Neuroblastoma 3 2016-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000616049 SCV000883388 benign Neuroblastoma 3 2018-07-03 criteria provided, single submitter clinical testing
ITMI RCV000119980 SCV000084110 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616049 SCV000734184 benign Neuroblastoma 3 no assertion criteria provided clinical testing
Faculté Pluridciplinaire Nador,Université Mohamed Premier RCV001250937 SCV001250920 likely pathogenic Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing

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