ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) (rs11750821)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321964 SCV000456884 likely benign Ehlers-Danlos syndrome dermatosparaxis type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000442585 SCV000520267 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 RCV000442585 SCV000918396 benign not specified 2018-04-30 criteria provided, single submitter clinical testing Variant summary: ADAMTS2 c.722G>A (p.Arg241His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.087 in 276330 control chromosomes in the gnomAD database, including 1197 homozygotes. The observed variant frequency is approximately 30-fold higher than the estimated maximal expected allele frequency for a pathogenic variant in ADAMTS2 causing Ehlers-Danlos Syndrome, Type VIIC (Dermatosparaxis) phenotype (0.0029), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.722G>A in individuals affected with Ehlers-Danlos Syndrome, Type VIIC (Dermatosparaxis) and no experimental evidence demonstrating its impact on protein function have been reported. Multiple ClinVar submissions from clinical diagnostic laboratories (evaulation after 2014) cite the variant as "likely benign/benign." Based on the evidence outlined above, the variant was classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000321964 SCV000734402 benign Ehlers-Danlos syndrome dermatosparaxis type no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000321964 SCV000745666 benign Ehlers-Danlos syndrome dermatosparaxis type 2014-02-04 no assertion criteria provided clinical testing

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