ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) (rs1670283)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000119976 SCV000310077 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000119976 SCV000331391 benign not specified 2015-09-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000608829 SCV000429918 benign Neuroblastoma 3 2018-01-12 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 RCV000119976 SCV000518936 benign not specified 2016-03-02 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.
Ambry Genetics RCV000573143 SCV000664939 benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590065 SCV000698296 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.4381A>G variant affects a non-conserved nucleotide, resulting in amino acid change from Ile to Val. 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 120930/121274 control chromosomes (60296 homozygotes) at a frequency of 0.9971634, which is about 2393192 times of the maximal expected frequency of a pathogenic allele (0.0000004), suggesting the variant to be the ancestral allele; therefore it is classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608829 SCV000744251 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000608829 SCV000745623 benign Neuroblastoma 3 2016-01-15 criteria provided, single submitter clinical testing
ITMI RCV000119976 SCV000084106 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608829 SCV000734186 benign Neuroblastoma 3 no assertion criteria provided clinical testing
Faculté Pluridciplinaire Nador,Université Mohamed Premier RCV001250949 SCV001250932 likely pathogenic Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing

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