ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3375C>A (p.Gly1125=) (rs3795850)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575258 SCV000664948 benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605605 SCV000744253 benign Neuroblastoma 3 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605605 SCV000734188 benign Neuroblastoma 3 no assertion criteria provided clinical testing
GeneDx RCV000431279 SCV000518940 benign not specified 2016-04-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000284362 SCV000429933 benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588253 SCV000698292 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.3375C>A variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 4/4 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC with an allele frequency of 32.7% which includes 8232 homozygous occurrences, strong evidence that this is a benign polymorphism. Due to the synonymous nature of this variant and the high allele frequency in the general population, this variant has been classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000431279 SCV000538272 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

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