ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.55del (p.Leu19fs)

dbSNP: rs1757915135
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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 RCV001216722 SCV001388533 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2022-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu19Cysfs*146) in the ADAMTS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 945961). For these reasons, this variant has been classified as Pathogenic.

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