ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)

gnomAD frequency: 0.00010  dbSNP: rs755099137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646238 SCV000768001 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001566944 SCV001790535 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV003965371 SCV004784840 likely benign ADAMTS2-related disorder 2023-05-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000646238 SCV001463000 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-06-04 no assertion criteria provided clinical testing

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