ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4338C>T (p.Thr1446=) (rs56132472)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244172 SCV000310076 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390900 SCV000429921 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 RCV000244172 SCV000518972 benign not specified 2016-06-27 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.
Ambry Genetics RCV000569897 SCV000664944 benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588694 SCV000698295 benign not provided 2016-04-26 criteria provided, single submitter clinical testing Variant summary: The c.4338C>T variant affects a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts changes of binding motifs for splicing enhancers. This variant is found in 10961/117122 control chromosomes (649 homozygotes) at a frequency of 0.0935862, which is about 224607 times of the maximal expected frequency of a pathogenic allele (0.0000004), suggesting this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as Benign.
Faculté Pluridciplinaire Nador,Université Mohamed Premier RCV001250940 SCV001250923 likely benign Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing

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