ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)

gnomAD frequency: 0.00048  dbSNP: rs117222015
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270240 SCV000456880 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001310892 SCV000714783 benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Invitae RCV000270240 SCV000768015 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310892 SCV001500869 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278601 SCV002566034 likely benign Ehlers-Danlos syndrome 2020-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950250 SCV004774444 benign ADAMTS2-related condition 2019-07-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000270240 SCV002084212 benign Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-21 no assertion criteria provided clinical testing

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