ClinVar Miner

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

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573143 SCV000664939 benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608829 SCV000744251 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608829 SCV000734186 benign Neuroblastoma 3 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000119976 SCV000331391 benign not specified 2015-09-10 criteria provided, single submitter clinical testing
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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000608829 SCV000745623 benign Neuroblastoma 3 2016-01-15 no assertion criteria provided clinical testing
ITMI RCV000119976 SCV000084106 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000390907 SCV000429918 benign Neuroblastoma Susceptibility 2016-06-14 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.
PreventionGenetics RCV000119976 SCV000310077 benign not specified criteria provided, single submitter clinical testing

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