ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.842dup (p.His282fs)

dbSNP: rs1764730959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224756 SCV001396976 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2019-04-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His282Profs*19) in the ADAMTS2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ADAMTS2-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273).

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