ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) (rs2278221)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000265344 SCV000342085 benign not specified 2016-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400563 SCV000456871 benign Ehlers-Danlos syndrome dermatosparaxis type 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 RCV000265344 SCV000520272 benign not specified 2016-10-06 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.
Integrated Genetics/Laboratory Corporation of America RCV000588406 SCV000699360 benign not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The c.1194C>T (p.Asp398=) in ADAMTS2 gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.267 (30190/113050 chrs tested), including 4040 homozygotes. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant in this gene (0.0029), suggesting that it is a benign polymorphism. The variant of interest has been cited as Benign by a reputable database/clinical laboratory. Taking together, based on the prevalence in general population the variant was classified as Benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000400563 SCV000734399 benign Ehlers-Danlos syndrome dermatosparaxis type no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000400563 SCV000745663 benign Ehlers-Danlos syndrome dermatosparaxis type 2014-11-19 no assertion criteria provided clinical testing

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