ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1427T>C (p.Val476Ala) (rs35093491)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000119989 SCV000310066 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000470544 SCV000429961 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 RCV000119989 SCV000518943 benign not specified 2017-09-27 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.
Invitae RCV000470544 SCV000554753 benign Neuroblastoma 3 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566776 SCV000664984 benign Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589563 SCV000698284 benign not provided 2016-08-24 criteria provided, single submitter clinical testing Variant summary: The ALK c.1427T>C (p.Val476Ala) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 3594/122674 control chromosomes (67 homozygotes) at a frequency of 0.0292972, which is approximately 70313 times the estimated maximal expected allele frequency of a pathogenic ALK variant (0.0000004), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000470544 SCV000744258 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000470544 SCV000883390 benign Neuroblastoma 3 2018-08-27 criteria provided, single submitter clinical testing
ITMI RCV000119989 SCV000084119 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000470544 SCV000745627 benign Neuroblastoma 3 2016-01-15 no assertion criteria provided clinical testing

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