ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter)

dbSNP: rs1762930637
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039989 SCV001203541 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2019-12-13 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Ehlers-Danlos syndrome (PMID: 26765342). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp795*) in the ADAMTS2 gene. It is expected to result in an absent or disrupted protein product.

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